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NM_004006.3(DMD):c.10699C>T (p.Gln3567Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 30, 2020)
Last evaluated:
Sep 29, 2019
Accession:
VCV000984095.1
Variation ID:
984095
Description:
single nucleotide variant
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NM_004006.3(DMD):c.10699C>T (p.Gln3567Ter)

Allele ID
972406
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.2
Genomic location
X: 31147373 (GRCh38) GRCh38 UCSC
X: 31165490 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.31165490G>A
NC_000023.11:g.31147373G>A
NM_004006.3:c.10699C>T MANE Select NP_003997.2:p.Gln3567Ter nonsense
... more HGVS
Protein change
Q1094*, Q1107*, Q2223*, Q2226*, Q3444*, Q3559*, Q3563*, Q3567*, Q486*, Q499*, Q838*, Q997*
Other names
-
Canonical SPDI
NC_000023.11:31147372:G:A
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 pathogenic 1 no assertion criteria provided Sep 29, 2019 RCV001264100.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DMD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4801 5018

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 29, 2019)
no assertion criteria provided
Method: clinical testing
Duchenne muscular dystrophy
Becker muscular dystrophy
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001442200.1
Submitted: (Oct 30, 2020)
Comment:
NM_004006.2(DMD):c.10699C>T(Q3567*) is expected to be pathogenic in the context of dystrophinopathy (including Duchenne/Becker muscular dystrophy). This variant is predicted to lead to an abnormal or … (more)
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 Jun 14, 2021