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NM_004360.5(CDH1):c.2296-1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
May 4, 2020
Accession:
VCV000371806.5
Variation ID:
371806
Description:
single nucleotide variant
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NM_004360.5(CDH1):c.2296-1G>A

Allele ID
358917
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q22.1
Genomic location
16: 68829653 (GRCh38) GRCh38 UCSC
16: 68863556 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.68829653G>A
NC_000016.9:g.68863556G>A
NM_004360.5:c.2296-1G>A MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:68829652:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16042157
dbSNP: rs1057517542
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 4, 2020 RCV000492413.5
Likely pathogenic 1 criteria provided, single submitter Dec 18, 2015 RCV000410537.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDH1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2750 2790

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 18, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary diffuse gastric cancer
Allele origin: unknown
Counsyl
Accession: SCV000488067.1
Submitted: (Nov 23, 2016)
Evidence details
Likely pathogenic
(May 04, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000684420.3
Submitted: (May 19, 2020)
Comment:
This variant causes a G to A nucleotide substitution at the -1 position of intron 14 of the CDH1 gene. Splice site prediction tools predict … (more)
Evidence details
Pathogenic
(Oct 14, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000580714.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.2296-1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide upstream from coding exon 15 of the CDH1 gene. This alteration … (more)

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 rs1057517542...

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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 Feb 03, 2021