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NM_005236.3(ERCC4):c.816T>A (p.Pro272=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 10, 2019
Accession:
VCV001107043.1
Variation ID:
1107043
Description:
single nucleotide variant
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NM_005236.3(ERCC4):c.816T>A (p.Pro272=)

Allele ID
1103504
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.12
Genomic location
16: 13930733 (GRCh38) GRCh38 UCSC
16: 14024590 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.13930733T>A
NC_000016.9:g.14024590T>A
NM_005236.3:c.816T>A MANE Select NP_005227.1:p.Pro272= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:13930732:T: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 benign 1 criteria provided, single submitter May 10, 2019 RCV001432018.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERCC4 - - GRCh38
GRCh37
420 441

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 10, 2019)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Allele origin: germline
Invitae
Accession: SCV001634782.1
Submitted: (Jan 07, 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 May 26, 2021