U.S. flag

An official website of the United States government

NM_005633.4(SOS1):c.3322G>C (p.Asp1108His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 2023
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:
RCV003278923.2

Allele description [Variation Report for NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)]

NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)

Gene:
SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.1
Genomic location:
Preferred name:
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)
HGVS:
  • NC_000002.12:g.38995147C>G
  • NG_007530.1:g.130317G>C
  • NM_001382394.1:c.3301G>C
  • NM_001382395.1:c.3322G>C
  • NM_005633.4:c.3322G>CMANE SELECT
  • NP_001369323.1:p.Asp1101His
  • NP_001369324.1:p.Asp1108His
  • NP_005624.2:p.Asp1108His
  • NP_005624.2:p.Asp1108His
  • LRG_754t1:c.3322G>C
  • LRG_754:g.130317G>C
  • LRG_754p1:p.Asp1108His
  • NC_000002.11:g.39222288C>G
  • NM_005633.3:c.3322G>C
Protein change:
D1101H
Links:
dbSNP: rs199856844
NCBI 1000 Genomes Browser:
rs199856844
Molecular consequence:
  • NM_001382394.1:c.3301G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382395.1:c.3322G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005633.4:c.3322G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004002680Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 20, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.

Leach NT, Wilson Mathews DR, Rosenblum LS, Zhou Z, Zhu H, Heim RA.

Genet Med. 2019 Feb;21(2):417-425. doi: 10.1038/s41436-018-0062-0. Epub 2018 Jun 15. Erratum in: Genet Med. 2019 Jul;21(7):1670. doi: 10.1038/s41436-018-0128-z.

PubMed [citation]
PMID:
29907801

Details of each submission

From Ambry Genetics, SCV004002680.2

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

Description

The p.D1108H variant (also known as c.3322G>C), located in coding exon 20 of the SOS1 gene, results from a G to C substitution at nucleotide position 3322. The aspartic acid at codon 1108 is replaced by histidine, an amino acid with similar properties. This alteration was reported in a prenatal subject with cystic hygroma (Leach NT et al. Genet Med, 2019 Feb;21:417-425). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024