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NM_000186.4(CFH):c.1252C>T (p.Pro418Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 17, 2024
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:
RCV004071953.1

Allele description [Variation Report for NM_000186.4(CFH):c.1252C>T (p.Pro418Ser)]

NM_000186.4(CFH):c.1252C>T (p.Pro418Ser)

Gene:
CFH:complement factor H [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_000186.4(CFH):c.1252C>T (p.Pro418Ser)
HGVS:
  • NC_000001.11:g.196690155C>T
  • NG_007259.1:g.43145C>T
  • NM_000186.4:c.1252C>TMANE SELECT
  • NM_001014975.3:c.1252C>T
  • NP_000177.2:p.Pro418Ser
  • NP_000177.2:p.Pro418Ser
  • NP_001014975.1:p.Pro418Ser
  • LRG_47t1:c.1252C>T
  • LRG_47:g.43145C>T
  • LRG_47p1:p.Pro418Ser
  • NC_000001.10:g.196659285C>T
  • NM_000186.3:c.1252C>T
Protein change:
P418S
Molecular consequence:
  • NM_000186.4:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001014975.3:c.1252C>T - 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
SCV004923713Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 17, 2024) 		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, SCV004923713.1

#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: Sep 29, 2024