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NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 28, 2020
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:
RCV001662499.3

Allele description [Variation Report for NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)]

NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)

Gene:
SPG7:SPG7 matrix AAA peptidase subunit, paraplegin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
HGVS:
  • NC_000016.10:g.89531949G>C
  • NG_008082.1:g.28553G>C
  • NM_001363850.1:c.1033G>C
  • NM_003119.4:c.1033G>CMANE SELECT
  • NM_199367.3:c.1033G>C
  • NP_001350779.1:p.Ala345Pro
  • NP_003110.1:p.Ala345Pro
  • NP_955399.1:p.Ala345Pro
  • NC_000016.9:g.89598357G>C
  • NM_003119.2:c.1033G>C
  • NM_003119.3:c.1033G>C
Protein change:
A345P
Links:
dbSNP: rs368373840
NCBI 1000 Genomes Browser:
rs368373840
Molecular consequence:
  • NM_001363850.1:c.1033G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003119.4:c.1033G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199367.3:c.1033G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001879859Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)
Uncertain significance
(Oct 28, 2020)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S.

Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18.

PubMed [citation]
PMID:
29915382
PMCID:
PMC6524765

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV001879859.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024