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NM_000505.4(F12):c.952G>C (p.Ala318Pro) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 26, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004385792.1

Allele description [Variation Report for NM_000505.4(F12):c.952G>C (p.Ala318Pro)]

NM_000505.4(F12):c.952G>C (p.Ala318Pro)

Gene:
F12:coagulation factor XII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_000505.4(F12):c.952G>C (p.Ala318Pro)
HGVS:
  • NC_000005.10:g.177404262C>G
  • NG_007568.1:g.10315G>C
  • NG_016223.2:g.24830C>G
  • NG_106810.1:g.679C>G
  • NG_106810.2:g.679C>G
  • NM_000505.4:c.952G>CMANE SELECT
  • NP_000496.2:p.Ala318Pro
  • NP_000496.2:p.Ala318Pro
  • LRG_145t1:c.952G>C
  • LRG_145:g.10315G>C
  • LRG_145p1:p.Ala318Pro
  • NC_000005.9:g.176831263C>G
  • NM_000505.3:c.952G>C
Protein change:
A318P
Molecular consequence:
  • NM_000505.4:c.952G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004864914Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 26, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004864914.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024