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NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000241503.9
Variation ID:
241503
Description:
single nucleotide variant
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NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=)

Allele ID
239776
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q32
Genomic location
5: 149027410 (GRCh38) GRCh38 UCSC
5: 148406973 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.149027410G>A
NG_007947.2:g.40765C>T
NM_024577.4:c.2322C>T MANE Select NP_078853.2:p.Asp774= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:149027409:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01458 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00384
Exome Aggregation Consortium (ExAC) 0.00415
1000 Genomes Project 0.01458
Trans-Omics for Precision Medicine (TOPMed) 0.00224
The Genome Aggregation Database (gnomAD), exomes 0.00449
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00125
The Genome Aggregation Database (gnomAD) 0.00245
Links
ClinGen: CA3499023
dbSNP: rs17795193
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 30, 2016 RCV000420321.1
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV000229675.8
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000370361.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001095010.1
Benign 1 criteria provided, single submitter - RCV001173904.1
Benign 1 criteria provided, single submitter Feb 22, 2018 RCV001257243.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SH3TC2 - - GRCh38
GRCh37
1240 1260

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 30, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000615243.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Feb 16, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000514622.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Mononeuropathy of the median nerve, mild
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454543.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 4C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454544.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000290775.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001337020.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Feb 22, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001433775.1
Submitted: (Oct 10, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs17795193...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021