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NM_000129.4(F13A1):c.996A>C (p.Pro332=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 14, 2021)
Last evaluated:
Jun 9, 2021
Accession:
VCV000255187.4
Variation ID:
255187
Description:
single nucleotide variant
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NM_000129.4(F13A1):c.996A>C (p.Pro332=)

Allele ID
252450
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 6222149 (GRCh38) GRCh38 UCSC
6: 6222382 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_549:g.103543A>C
LRG_549t1:c.996A>C LRG_549p1:p.Pro332=
NC_000006.11:g.6222382T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:6222148:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.09345 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.15785
1000 Genomes Project 0.09345
The Genome Aggregation Database (gnomAD) 0.15556
Trans-Omics for Precision Medicine (TOPMed) 0.14454
Links
ClinGen: CA3624493
dbSNP: rs5981
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter - RCV000249062.1
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000326873.2
Benign 1 criteria provided, single submitter Jun 9, 2021 RCV001651102.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F13A1 - - GRCh38
GRCh37
162 200

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302403.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Factor XIII, A subunit, deficiency of
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000464372.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jun 09, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001866219.1
Submitted: (Sep 14, 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.

Text-mined citations for rs5981...

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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 Oct 24, 2021