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NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 21, 2021)
Last evaluated:
Jul 7, 2020
Accession:
VCV000917927.3
Variation ID:
917927
Description:
single nucleotide variant
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NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)

Allele ID
906239
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p15.32
Genomic location
4: 15599563 (GRCh38) GRCh38 UCSC
4: 15601186 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_697:g.134698T>C
LRG_697t1:c.4531T>C LRG_697p1:p.Trp1511Arg
NC_000004.11:g.15601186T>C
... more HGVS
Protein change
W1462R, W1511R
Other names
-
Canonical SPDI
NC_000004.12:15599562:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1721483506
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 3 criteria provided, multiple submitters, no conflicts Jul 7, 2020 RCV001175193.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CC2D2A - - GRCh38
GRCh37
833 879

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Meckel syndrome type 6
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438889.1
Submitted: (May 26, 2020)
Evidence details
Pathogenic
(Jul 07, 2020)
criteria provided, single submitter
Method: clinical testing
Meckel syndrome type 6
Allele origin: unknown
Baylor Genetics
Accession: SCV001521088.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Meckel syndrome type 6
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV001338717.1
Submitted: (Dec 13, 2019)
Comment:
It was observed with the other variant (NM_001080522.2:c.2339-2A>C)
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.

Text-mined citations for rs1721483506...

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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 Nov 27, 2021