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NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) AND Simpson-Golabi-Behmel syndrome type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 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:
RCV001294010.1

Allele description [Variation Report for NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)]

NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)

Gene:
GPC3:glypican 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.2
Genomic location:
Preferred name:
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)
HGVS:
  • NC_000023.11:g.133753717T>C
  • NG_009286.1:g.236923A>G
  • NM_001164617.2:c.797A>G
  • NM_001164618.2:c.749A>G
  • NM_001164619.2:c.635A>G
  • NM_004484.4:c.797A>GMANE SELECT
  • NP_001158089.1:p.Gln266Arg
  • NP_001158090.1:p.Gln250Arg
  • NP_001158091.1:p.Gln212Arg
  • NP_004475.1:p.Gln266Arg
  • LRG_505t1:c.797A>G
  • LRG_505:g.236923A>G
  • NC_000023.10:g.132887744T>C
  • NM_004484.3:c.797A>G
Protein change:
Q212R
Links:
dbSNP: rs765072095
NCBI 1000 Genomes Browser:
rs765072095
Molecular consequence:
  • NM_001164617.2:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164618.2:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164619.2:c.635A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004484.4:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Simpson-Golabi-Behmel syndrome type 1 (SGBS1)
Synonyms:
Simpson dysmorphia syndrome; Bulldog syndrome; Golabi-Rosen syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0020602; MedGen: C0796154; Orphanet: 373; OMIM: 312870

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482761Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 7, 2020) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot 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 Baylor Genetics - CSER-TexasKidsCanSeq, SCV001482761.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Apr 15, 2024