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NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 4, 2022
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:
RCV002520237.2

Allele description [Variation Report for NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu)]

NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu)

Gene:
SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu)
Other names:
p.Ser456Leu
HGVS:
  • NC_000004.12:g.2831939C>T
  • NG_011609.1:g.43917C>T
  • NM_001122681.2:c.1367C>TMANE SELECT
  • NM_001145855.2:c.1451C>T
  • NM_001145856.2:c.1538C>T
  • NM_003023.4:c.1367C>T
  • NP_001116153.1:p.Ser456Leu
  • NP_001139327.1:p.Ser484Leu
  • NP_001139328.1:p.Ser513Leu
  • NP_003014.3:p.Ser456Leu
  • LRG_1334t1:c.1367C>T
  • LRG_1334t2:c.1451C>T
  • LRG_1334:g.43917C>T
  • LRG_1334p1:p.Ser456Leu
  • LRG_1334p2:p.Ser484Leu
  • NC_000004.11:g.2833666C>T
Protein change:
S456L
Links:
dbSNP: rs199818232
NCBI 1000 Genomes Browser:
rs199818232
Molecular consequence:
  • NM_001122681.2:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145855.2:c.1451C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145856.2:c.1538C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003023.4:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003576007Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003576007.2

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

Description

The c.1367C>T (p.S456L) alteration is located in exon 10 (coding exon 9) of the SH3BP2 gene. This alteration results from a C to T substitution at nucleotide position 1367, causing the serine (S) at amino acid position 456 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, 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