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NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 24, 2020)
Last evaluated:
Sep 12, 2019
Accession:
VCV000930778.2
Variation ID:
930778
Description:
2bp microsatellite
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NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)

Allele ID
919115
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
7q11.23
Genomic location
7: 73469050-73469051 (GRCh37) GRCh37 UCSC
7: 74054720-74054721 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.73469051GT[1]
NC_000007.14:g.74054721GT[1]
NG_009261.1:g.31625GT[1]
... more HGVS
Protein change
S333fs, S359fs, S369fs, S325fs, S355fs, S364fs, S374fs
Other names
-
Canonical SPDI
NC_000007.14:74054719:TGTGT:TGT
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
Pathogenic 1 criteria provided, single submitter Sep 12, 2019 RCV001196683.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ELN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
405 629

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 12, 2019)
criteria provided, single submitter
Method: clinical testing
Williams syndrome
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001367314.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PM2,PP4.

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 Oct 08, 2021