NM_001128840.3(CACNA1D):c.5122C>T (p.His1708Tyr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 26, 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:: RCV003355872.2

Allele description [Variation Report for NM_001128840.3(CACNA1D):c.5122C>T (p.His1708Tyr)]

NM_001128840.3(CACNA1D):c.5122C>T (p.His1708Tyr)

Gene:

CACNA1D:calcium voltage-gated channel subunit alpha1 D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

Preferred name:

NM_001128840.3(CACNA1D):c.5122C>T (p.His1708Tyr)

HGVS:

NC_000003.12:g.53801139C>T
NG_032999.1:g.311091C>T
NM_000720.2:c.5182C>T
NM_000720.4:c.5182C>T
NM_001128839.3:c.5077C>T
NM_001128840.3:c.5122C>TMANE SELECT
NP_000711.1:p.His1728Tyr
NP_001122311.1:p.His1693Tyr
NP_001122312.1:p.His1708Tyr
NC_000003.11:g.53835166C>T

Protein change:

H1693Y

Molecular consequence:

NM_000720.4:c.5182C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128839.3:c.5077C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128840.3:c.5122C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004071982	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004071982

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 26, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004071982.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.5182C>T (p.H1728Y) alteration is located in exon 43 (coding exon 43) of the CACNA1D gene. This alteration results from a C to T substitution at nucleotide position 5182, causing the histidine (H) at amino acid position 1728 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine