NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) AND Inherited Immunodeficiency Diseases

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001027620.1

Allele description [Variation Report for NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile)]

NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile)

Gene:
SMARCAL1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile)
HGVS:
  • NC_000002.12:g.216464640C>T
  • NG_009771.1:g.57227C>T
  • NM_001127207.2:c.2114C>T
  • NM_014140.3:c.2114C>T
  • NP_001120679.1:p.Thr705Ile
  • NP_054859.2:p.Thr705Ile
  • LRG_108t1:c.2114C>T
  • LRG_108:g.57227C>T
  • LRG_108p1:p.Thr705Ile
  • NC_000002.11:g.217329363C>T
Protein change:
T705I
Links:
dbSNP: rs200644381
NCBI 1000 Genomes Browser:
rs200644381
Molecular consequence:
  • NM_001127207.2:c.2114C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014140.3:c.2114C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inherited Immunodeficiency Diseases
Identifiers:
MeSH: D000081207; MedGen: C5197805

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190192NIHR Bioresource Rare Diseases, University of Cambridgecriteria provided, single submitter
Likely pathogenic
(Jan 1, 2019)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided2not providedresearch

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 NIHR Bioresource Rare Diseases, University of Cambridge, SCV001190192.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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