NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000755785.1

Allele description [Variation Report for NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro)]

NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro)

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_000020.2(ACVRL1):c.905T>C (p.Leu302Pro)
HGVS:
  • NC_000012.12:g.51915357T>C
  • NG_009549.1:g.12940T>C
  • NM_000020.2:c.905T>C
  • NM_001077401.2:c.905T>C
  • NP_000011.2:p.Leu302Pro
  • NP_001070869.1:p.Leu302Pro
  • LRG_543t1:c.905T>C
  • LRG_543:g.12940T>C
  • LRG_543p1:p.Leu302Pro
  • NC_000012.11:g.52309141T>C
Protein change:
L302P
Links:
dbSNP: rs1565594217
NCBI 1000 Genomes Browser:
rs1565594217
Molecular consequence:
  • NM_000020.2:c.905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.905T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883357ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jun 27, 2017)
germlineclinical testing

Citation Link

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, SCV000883357.1

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

Description

The ACVRL1 c.905T>C; p.Leu302Pro variant has not been reported in the literature or gene-specific databases. However, a different variant at this codon, p.Leu302Arg, has been reported to segregate with disease in a German family with hereditary hemorrhagic telangiectasia (Schulte 2005). The highly conserved leucine at codon 302 is located in the protein kinase domain, and computational algorithms (SIFT, PolyPhen2, MutationTaster) predict the p.Leu302Pro variant to be damaging to the protein. Due to the limited information regarding p.Leu302Pro, its clinical significance is uncertain at this time. REFERENCES Schulte C et al. High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. Hum Mutat. 2005 Jun;25(6):595.

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

Last Updated: Apr 12, 2021

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