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NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000139102.6
Variation ID:
139102
Description:
single nucleotide variant
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NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)

Allele ID
142805
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q32
Genomic location
5: 149006962 (GRCh38) GRCh38 UCSC
5: 148386525 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.148386525T>C
NM_024577.3:c.3594A>G NP_078853.2:p.Pro1198= synonymous
LRG_269:g.61213A>G
... more HGVS
Protein change
-
Other names
p.P1198P:CCA>CCG
Canonical SPDI
NC_000005.10:149006961:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.38339 (G)

Allele frequency
1000 Genomes Project 0.14637
Links
ClinGen: CA293476
dbSNP: rs6871030
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 28, 2014 RCV000128035.2
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000197015.9
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000383172.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV001094972.1
Benign 1 criteria provided, single submitter - RCV001173895.1
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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
1238 1258

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 28, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000171626.10
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
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000252855.8
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Mononeuropathy of the median nerve, mild
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454515.3
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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 4C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454514.3
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
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001337011.1
Submitted: (Apr 07, 2020)
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 rs6871030...

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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 Oct 30, 2021