NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys) AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Uncertain significance (Last evaluated: Nov 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000474312.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys)]

NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys)
HGVS:
  • NC_000012.12:g.51915368_51915369delinsAA
  • NG_009549.1:g.12951_12952delinsAA
  • NM_000020.3:c.916_917delinsAAMANE SELECT
  • NM_001077401.2:c.916_917delinsAA
  • NP_000011.2:p.Ala306Lys
  • NP_001070869.1:p.Ala306Lys
  • LRG_543:g.12951_12952delinsAA
  • NC_000012.11:g.52309152_52309153delinsAA
  • NM_000020.2:c.916_917delGCinsAA
Protein change:
A306K
Links:
dbSNP: rs1060503244
NCBI 1000 Genomes Browser:
rs1060503244
Molecular consequence:
  • NM_000020.3:c.916_917delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.916_917delinsAA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)
Synonyms:
Telangiectasia, hereditary hemorrhagic, type II; Osler Weber Rendu syndrome type 2
Identifiers:
MONDO: MONDO:0010880; MedGen: C1838163; Orphanet: 774; OMIM: 600376

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000552411Invitaecriteria provided, single submitter
Uncertain significance
(Nov 18, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000552411.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change deletes 2 nucleotides and inserts 2 nucleotides in exon 7 of the ACVRL1 mRNA (c.916_917delGCinsAA), but otherwise preserves the integrity of the reading frame. This change replaces alanine with lysine at codon 306 of the ACVRL1 protein (p.Ala306Lys). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ACVRL1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted/inserted nucleotides is currently unknown. In summary, this sequence change results in a missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 25, 2021

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