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NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 3, 2020
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:
RCV002254297.2

Allele description [Variation Report for NM_002067.5(GNA11):c.626A>T (p.Gln209Leu)]

NM_002067.5(GNA11):c.626A>T (p.Gln209Leu)

Gene:
GNA11:G protein subunit alpha 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu)
HGVS:
  • NC_000019.10:g.3118944A>T
  • NG_033852.2:g.29535A>T
  • NM_002067.5:c.626A>TMANE SELECT
  • NP_002058.2:p.Gln209Leu
  • LRG_1111t1:c.626A>T
  • LRG_1111:g.29535A>T
  • LRG_1111p1:p.Gln209Leu
  • NC_000019.9:g.3118942A>T
  • NM_002067.4:c.626A>T
Protein change:
Q209L
Links:
dbSNP: rs1057519742
NCBI 1000 Genomes Browser:
rs1057519742
Molecular consequence:
  • NM_002067.5:c.626A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525654Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 3, 2020) 		somaticclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002525654.1

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

Description

The same somatic GNA11 missense mutation is reported in several affected individuals with congenital hemangiomas, including one individual (participant 16) with a hepatic congentital hemangioma (PMID: 27058448). Postnatally, the tumors were described as either rapidly involuting congenital hemangioma (RICH) or non-involuting congenital hemangioma (NICH) (PMID: 27058448).

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

Last Updated: Jul 16, 2023