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NM_001105206.3(LAMA4):c.2814G>T (p.Arg938Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 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:
RCV003296629.2

Allele description [Variation Report for NM_001105206.3(LAMA4):c.2814G>T (p.Arg938Ser)]

NM_001105206.3(LAMA4):c.2814G>T (p.Arg938Ser)

Genes:
LOC126859766:MED14-independent group 3 enhancer GRCh37_chr6:112462018-112463217 [Gene]
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.2814G>T (p.Arg938Ser)
HGVS:
  • NC_000006.12:g.112140922C>A
  • NG_008209.1:g.118705G>T
  • NG_084267.1:g.207C>A
  • NM_001105206.3:c.2814G>TMANE SELECT
  • NM_001105207.3:c.2793G>T
  • NM_002290.5:c.2793G>T
  • NP_001098676.2:p.Arg938Ser
  • NP_001098677.2:p.Arg931Ser
  • NP_002281.2:p.Arg931Ser
  • NP_002281.3:p.Arg931Ser
  • LRG_433t2:c.2793G>T
  • LRG_433:g.118705G>T
  • LRG_433p2:p.Arg931Ser
  • NC_000006.11:g.112462124C>A
  • NM_002290.3:c.2793G>T
Protein change:
R931S
Molecular consequence:
  • NM_001105206.3:c.2814G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105207.3:c.2793G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002290.5:c.2793G>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
SCV004000342Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 26, 2023) 		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, SCV004000342.2

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

Description

The p.R931S variant (also known as c.2793G>T) is located in coding exon 21 of the LAMA4 gene. The arginine at codon 931 is replaced by serine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 21. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024