NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000513504.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)]

NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)

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.772G>A (p.Gly258Ser)

HGVS:

NC_000012.12:g.51914585G>A
NG_009549.1:g.12168G>A
NM_000020.3:c.772G>AMANE SELECT
NM_001077401.2:c.772G>A
NP_000011.2:p.Gly258Ser
NP_000011.2:p.Gly258Ser
NP_001070869.1:p.Gly258Ser
LRG_543t1:c.772G>A
LRG_543:g.12168G>A
LRG_543p1:p.Gly258Ser
NC_000012.11:g.52308369G>A
NM_000020.2:c.772G>A

Protein change:

G258S

Links:

dbSNP: rs1555152966

NCBI 1000 Genomes Browser:

rs1555152966

Molecular consequence:

NM_000020.3:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001077401.2:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Telangiectasia, hereditary hemorrhagic, type 1 (HHT1)
Synonyms:: Osler Weber Rendu syndrome type 1
Identifiers:: MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000346041	Genetics, Medical University of Vienna	no assertion criteria provided	Likely pathogenic	somatic	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000346041

Genetics, Medical University of Vienna

no assertion criteria provided

Likely pathogenic

somatic

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A.

Hum Genet. 2010 Jul;128(1):61-77. doi: 10.1007/s00439-010-0825-4. Epub 2010 Apr 23.

PubMed [citation]

PMID:: 20414677

Details of each submission

From Genetics, Medical University of Vienna, SCV000346041.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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