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NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 24, 2017
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:
RCV000756965.8

Allele description [Variation Report for NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)]

NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)
HGVS:
  • NC_000012.12:g.51916105A>G
  • NG_009549.1:g.13688A>G
  • NM_000020.3:c.1118A>GMANE SELECT
  • NM_001077401.2:c.1118A>G
  • NP_000011.2:p.Lys373Arg
  • NP_000011.2:p.Lys373Arg
  • NP_001070869.1:p.Lys373Arg
  • LRG_543t1:c.1118A>G
  • LRG_543:g.13688A>G
  • LRG_543p1:p.Lys373Arg
  • NC_000012.11:g.52309889A>G
  • NM_000020.2:c.1118A>G
Protein change:
K373R
Links:
dbSNP: rs1324917279
NCBI 1000 Genomes Browser:
rs1324917279
Molecular consequence:
  • NM_000020.3:c.1118A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1118A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000884970ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Aug 24, 2017) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884970.1

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

Description

The p.Lys373Arg variant has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. The variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.061% in the Ashkenazi Jewish population (identified in 6 out of 9,834 chromosomes). The p.Lys373Arg variant is not listed in ClinVar, but other missense substitutions in nearby residues are classified as pathogenic, suggesting that this variant lies within a critical domain. The lysine at codon 373 is highly conserved considering 9 species up to Zebrafish (Alamut software v2.9), and computational analyses suggest that this variant effects the ACVRL1 protein structure/function (SIFT: damaging, PolyPhen2: probably damaging, MutationTaster: disease causing). However, based on the available information, the clinical significance of the p.Lys373Arg variant cannot be determined with certainty.

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

Last Updated: Mar 4, 2023