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NM_000244.3(MEN1):c.207del (p.Asp70fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Nov 22, 2016
Accession:
VCV000372643.2
Variation ID:
372643
Description:
1bp deletion
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NM_000244.3(MEN1):c.207del (p.Asp70fs)

Allele ID
359899
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
11q13.1
Genomic location
11: 64809903 (GRCh38) GRCh38 UCSC
11: 64577375 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.64809907del
NC_000011.9:g.64577379del
NM_000244.3:c.207del NP_000235.2:p.Asp70fs frameshift
... more HGVS
Protein change
D70fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16042759
dbSNP: rs1057517902
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 22, 2016 RCV000412904.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MEN1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
897 907

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 22, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000491019.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.207del C variant in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type I (MEN1) (for examples, see Agarwal ... (more)

Citations for this variant

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 Oct 27, 2019