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NM_002529.4(NTRK1):c.2229A>C (p.Gly743=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
May 1, 2021
Accession:
VCV001121715.2
Variation ID:
1121715
Description:
single nucleotide variant
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NM_002529.4(NTRK1):c.2229A>C (p.Gly743=)

Allele ID
1109602
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156881480 (GRCh38) GRCh38 UCSC
1: 156851272 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156851272A>C
NC_000001.11:g.156881480A>C
NM_002529.4:c.2229A>C MANE Select NP_002520.2:p.Gly743= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:156881479:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 4, 2020 RCV001452086.1
Likely benign 1 criteria provided, single submitter May 1, 2021 RCV001532558.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NTRK1 - - GRCh38
GRCh37
677 723

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV001655739.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001748174.1
Submitted: (Jul 04, 2021)
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.

Record last updated Jul 13, 2021