NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 20, 2024
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:: RCV004661688.1

Allele description [Variation Report for NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala)]

NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala)

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.467T>C (p.Val156Ala)

HGVS:

NC_000004.12:g.2827268T>C
NG_011609.1:g.39246T>C
NG_101840.1:g.533T>C
NM_001122681.2:c.467T>CMANE SELECT
NM_001145855.2:c.551T>C
NM_001145856.2:c.638T>C
NM_003023.4:c.467T>C
NP_001116153.1:p.Val156Ala
NP_001139327.1:p.Val184Ala
NP_001139328.1:p.Val213Ala
NP_003014.3:p.Val156Ala
LRG_1334t1:c.467T>C
LRG_1334t2:c.551T>C
LRG_1334:g.39246T>C
LRG_1334p1:p.Val156Ala
LRG_1334p2:p.Val184Ala
NC_000004.11:g.2828995T>C

Protein change:

V156A

Molecular consequence:

NM_001122681.2:c.467T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001145855.2:c.551T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001145856.2:c.638T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003023.4:c.467T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Mitochondrial ribosomal protein of the small subunit [Komagataella phaffii GS115...
Mitochondrial ribosomal protein of the small subunit [Komagataella phaffii GS115]
gi|254569000|ref|XP_002491610.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005157229	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 20, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005157229

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 20, 2024)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005157229.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.467T>C (p.V156A) alteration is located in exon 6 (coding exon 5) of the SH3BP2 gene. This alteration results from a T to C substitution at nucleotide position 467, causing the valine (V) at amino acid position 156 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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