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NM_005633.4(SOS1):c.3269dup (p.Pro1091fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 21, 2016
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:
RCV000414163.1

Allele description [Variation Report for NM_005633.4(SOS1):c.3269dup (p.Pro1091fs)]

NM_005633.4(SOS1):c.3269dup (p.Pro1091fs)

Gene:
SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p22.1
Genomic location:
Preferred name:
NM_005633.4(SOS1):c.3269dup (p.Pro1091fs)
HGVS:
  • NC_000002.12:g.38995201dup
  • NG_007530.1:g.130264dup
  • NM_001382394.1:c.3248dup
  • NM_001382395.1:c.3269dup
  • NM_005633.4:c.3269dupMANE SELECT
  • NP_001369323.1:p.Pro1084fs
  • NP_001369324.1:p.Pro1091fs
  • NP_005624.2:p.Pro1091fs
  • LRG_754:g.130264dup
  • NC_000002.11:g.39222342dup
  • NM_005633.3:c.3269dupC
Protein change:
P1084fs
Links:
dbSNP: rs1057518017
NCBI 1000 Genomes Browser:
rs1057518017
Molecular consequence:
  • NM_001382394.1:c.3248dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001382395.1:c.3269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005633.4:c.3269dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491367GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 21, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491367.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3269dupC variant in the SOS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3269dupC variant causes a frameshift starting with codon Proline 1091, changes this amino acid to a Alanine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Pro1091AlafsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3269dupC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3269dupC as a variant of uncertain significance which may be related to developmental delay, intellectual disability, and hypotonia.

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

Last Updated: Apr 23, 2022