NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) AND not specified

Clinical significance:Benign (Last evaluated: Mar 26, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000116518.9

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)]

NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)

Gene:
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
HGVS:
  • NC_000019.10:g.13298896G>A
  • NG_011569.1:g.212565C>T
  • NM_000068.4:c.2749C>T
  • NM_001127221.2:c.2740C>T
  • NM_001127222.2:c.2737C>TMANE SELECT
  • NM_001174080.2:c.2740C>T
  • NM_023035.3:c.2749C>T
  • NP_000059.3:p.Pro917Ser
  • NP_001120693.1:p.Pro914Ser
  • NP_001120693.1:p.Pro914Ser
  • NP_001120694.1:p.Pro913Ser
  • NP_001167551.1:p.Pro914Ser
  • NP_075461.2:p.Pro917Ser
  • LRG_7t1:c.2740C>T
  • LRG_7:g.212565C>T
  • LRG_7p1:p.Pro914Ser
  • NC_000019.9:g.13409710G>A
  • NM_000068.2:c.2740C>T
  • NM_001127221.1:c.2740C>T
Protein change:
P913S
Links:
dbSNP: rs16020
NCBI 1000 Genomes Browser:
rs16020
Molecular consequence:
  • NM_000068.4:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.2740C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.2737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.2740C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000150467Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Benign
(Apr 24, 2019)
germlineclinical testing

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

SCV000331730EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jun 12, 2015)
germlineclinical testing

Citation Link,

SCV000524679GeneDxcriteria provided, single submitter
Benign
(Dec 5, 2016)
germlineclinical testing

Citation Link,

SCV001476217Athena Diagnostics Inccriteria provided, single submitter
Benign
(Mar 26, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot 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

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 Genetic Services Laboratory,University of Chicago, SCV000150467.3

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000331730.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000524679.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Athena Diagnostics Inc, SCV001476217.1

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

Last Updated: Dec 4, 2021

Support Center