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NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 8, 2022
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:
RCV002446302.2

Allele description [Variation Report for NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)]

NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)

Genes:
LAMA4-AS1:LAMA4 antisense RNA 1 [Gene - HGNC]
LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)
HGVS:
  • NC_000006.12:g.112254129G>A
  • NG_008209.1:g.5498C>T
  • NM_001105206.3:c.22C>TMANE SELECT
  • NM_001105207.3:c.22C>T
  • NM_001105208.3:c.22C>T
  • NM_001105209.3:c.22C>T
  • NM_002290.5:c.22C>T
  • NP_001098676.2:p.Arg8Cys
  • NP_001098677.2:p.Arg8Cys
  • NP_001098678.1:p.Arg8Cys
  • NP_001098678.1:p.Arg8Cys
  • NP_001098679.1:p.Arg8Cys
  • NP_002281.2:p.Arg8Cys
  • NP_002281.3:p.Arg8Cys
  • LRG_433t1:c.22C>T
  • LRG_433t2:c.22C>T
  • LRG_433:g.5498C>T
  • LRG_433p1:p.Arg8Cys
  • LRG_433p2:p.Arg8Cys
  • NC_000006.11:g.112575331G>A
  • NM_001105208.1:c.22C>T
  • NM_002290.3:c.22C>T
Protein change:
R8C
Molecular consequence:
  • NM_001105206.3:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105207.3:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105208.3:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105209.3:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002290.5:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002732357Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 8, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002732357.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024