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NM_004462.5(FDFT1):c.1142A>C (p.His381Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 11, 2022
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:
RCV004151152.1

Allele description [Variation Report for NM_004462.5(FDFT1):c.1142A>C (p.His381Pro)]

NM_004462.5(FDFT1):c.1142A>C (p.His381Pro)

Gene:
FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
NM_004462.5(FDFT1):c.1142A>C (p.His381Pro)
HGVS:
  • NC_000008.11:g.11838497A>C
  • NM_001287742.2:c.1142A>C
  • NM_001287743.2:c.1142A>C
  • NM_001287744.2:c.950A>C
  • NM_001287745.2:c.950A>C
  • NM_001287747.2:c.950A>C
  • NM_001287748.2:c.950A>C
  • NM_001287749.2:c.950A>C
  • NM_001287750.2:c.1319A>C
  • NM_001287751.2:c.887A>C
  • NM_001287756.2:c.641A>C
  • NM_004462.5:c.1142A>CMANE SELECT
  • NP_001274671.1:p.His381Pro
  • NP_001274672.1:p.His381Pro
  • NP_001274673.1:p.His317Pro
  • NP_001274674.1:p.His317Pro
  • NP_001274676.1:p.His317Pro
  • NP_001274676.1:p.His317Pro
  • NP_001274677.1:p.His317Pro
  • NP_001274677.1:p.His317Pro
  • NP_001274678.1:p.His317Pro
  • NP_001274679.1:p.His440Pro
  • NP_001274680.1:p.His296Pro
  • NP_001274685.1:p.His214Pro
  • NP_004453.3:p.His381Pro
  • NC_000008.10:g.11696006A>C
  • NM_001287747.1:c.950A>C
  • NM_001287748.1:c.950A>C
  • NM_004462.3:c.1142A>C
Protein change:
H214P
Molecular consequence:
  • NM_001287742.2:c.1142A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287743.2:c.1142A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287744.2:c.950A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287745.2:c.950A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287747.2:c.950A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287748.2:c.950A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287749.2:c.950A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287750.2:c.1319A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287751.2:c.887A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287756.2:c.641A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004462.5:c.1142A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003642243Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 11, 2022) 		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, SCV003642243.2

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

Description

The c.1142A>C (p.H381P) alteration is located in exon 8 (coding exon 8) of the FDFT1 gene. This alteration results from a A to C substitution at nucleotide position 1142, causing the histidine (H) at amino acid position 381 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024