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NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 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:
RCV000371601.1

Allele description [Variation Report for NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile)]

NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile)

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.3697C>A (p.Leu1233Ile)
HGVS:
  • NC_000002.12:g.38986129G>T
  • NG_007530.1:g.139335C>A
  • NM_001382394.1:c.3676C>A
  • NM_001382395.1:c.3652C>A
  • NM_005633.4:c.3697C>AMANE SELECT
  • NP_001369323.1:p.Leu1226Ile
  • NP_001369324.1:p.Leu1218Ile
  • NP_005624.2:p.Leu1233Ile
  • NP_005624.2:p.Leu1233Ile
  • LRG_754t1:c.3697C>A
  • LRG_754:g.139335C>A
  • LRG_754p1:p.Leu1233Ile
  • NC_000002.11:g.39213270G>T
  • NM_005633.3:c.3697C>A
Protein change:
L1218I
Links:
dbSNP: rs777373438
NCBI 1000 Genomes Browser:
rs777373438
Molecular consequence:
  • NM_001382394.1:c.3676C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382395.1:c.3652C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005633.4:c.3697C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330447GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 25, 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, SCV000330447.7

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

Description

The L1233I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It 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. Although the L1233I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, this substitution does occur at a position that is conserved across species. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Sep 29, 2024