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NM_001083962.2(TCF4):c.1146+2T>C AND Hereditary spastic paraplegia 4

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003314498.1

Allele description [Variation Report for NM_001083962.2(TCF4):c.1146+2T>C]

NM_001083962.2(TCF4):c.1146+2T>C

Gene:
TCF4:transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_001083962.2(TCF4):c.1146+2T>C
HGVS:
  • NC_000018.10:g.55257313A>G
  • NG_011716.2:g.383681T>C
  • NM_001083962.2:c.1146+2T>CMANE SELECT
  • NM_001243226.3:c.1452+2T>C
  • NM_001243227.2:c.1074+2T>C
  • NM_001243228.2:c.1164+2T>C
  • NM_001243230.2:c.1137+2T>C
  • NM_001243231.2:c.1020+2T>C
  • NM_001243232.1:c.933+2T>C
  • NM_001243233.2:c.756+2T>C
  • NM_001243234.2:c.666+2T>C
  • NM_001243235.2:c.666+2T>C
  • NM_001243236.2:c.666+2T>C
  • NM_001306207.1:c.1074+2T>C
  • NM_001306208.1:c.933+2T>C
  • NM_001330604.3:c.1143+2T>C
  • NM_001330605.3:c.756+2T>C
  • NM_001348211.2:c.1020+2T>C
  • NM_001348212.2:c.756+2T>C
  • NM_001348213.2:c.756+2T>C
  • NM_001348214.2:c.663+2T>C
  • NM_001348215.2:c.498+2T>C
  • NM_001348216.2:c.666+2T>C
  • NM_001348217.1:c.1074+2T>C
  • NM_001348218.2:c.1074+2T>C
  • NM_001348219.2:c.1074+2T>C
  • NM_001348220.1:c.1071+2T>C
  • NM_001369567.1:c.1146+2T>C
  • NM_001369568.1:c.1146+2T>C
  • NM_001369569.1:c.1143+2T>C
  • NM_001369570.1:c.1143+2T>C
  • NM_001369571.1:c.1146+2T>C
  • NM_001369572.1:c.1146+2T>C
  • NM_001369573.1:c.1143+2T>C
  • NM_001369574.1:c.1143+2T>C
  • NM_001369575.1:c.1074+2T>C
  • NM_001369576.1:c.1071+2T>C
  • NM_001369577.1:c.1071+2T>C
  • NM_001369578.1:c.1071+2T>C
  • NM_001369579.1:c.1071+2T>C
  • NM_001369580.1:c.1071+2T>C
  • NM_001369581.1:c.1071+2T>C
  • NM_001369582.1:c.1074+2T>C
  • NM_001369583.1:c.1074+2T>C
  • NM_001369584.1:c.1071+2T>C
  • NM_001369585.1:c.1071+2T>C
  • NM_001369586.1:c.1077+2T>C
  • NM_003199.3:c.1146+2T>C
  • NC_000018.9:g.52924544A>G
Molecular consequence:
  • NM_001083962.2:c.1146+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243226.3:c.1452+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243227.2:c.1074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243228.2:c.1164+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243230.2:c.1137+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243231.2:c.1020+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243232.1:c.933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243233.2:c.756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243234.2:c.666+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243235.2:c.666+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243236.2:c.666+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001306207.1:c.1074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001306208.1:c.933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330604.3:c.1143+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330605.3:c.756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348211.2:c.1020+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348212.2:c.756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348213.2:c.756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348214.2:c.663+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348215.2:c.498+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348216.2:c.666+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348217.1:c.1074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348218.2:c.1074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348219.2:c.1074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348220.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369567.1:c.1146+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369568.1:c.1146+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369569.1:c.1143+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369570.1:c.1143+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369571.1:c.1146+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369572.1:c.1146+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369573.1:c.1143+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369574.1:c.1143+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369575.1:c.1074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369576.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369577.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369578.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369579.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369580.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369581.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369582.1:c.1074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369583.1:c.1074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369584.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369585.1:c.1071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369586.1:c.1077+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003199.3:c.1146+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hereditary spastic paraplegia 4
Synonyms:
Spastic paraplegia 4, autosomal dominant; Familial spastic paraplegia autosomal dominant 2
Identifiers:
MONDO: MONDO:0008438; MedGen: C1866855; Orphanet: 100985; OMIM: 182601

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004013925Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 31, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV004013925.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PVS1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025