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NM_023944.4(CYP4F12):c.745C>T (p.Leu249Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 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:
RCV004131457.1

Allele description [Variation Report for NM_023944.4(CYP4F12):c.745C>T (p.Leu249Phe)]

NM_023944.4(CYP4F12):c.745C>T (p.Leu249Phe)

Gene:
CYP4F12:cytochrome P450 family 4 subfamily F member 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_023944.4(CYP4F12):c.745C>T (p.Leu249Phe)
HGVS:
  • NC_000019.10:g.15683590C>T
  • NG_008336.2:g.15515C>T
  • NM_023944.4:c.745C>TMANE SELECT
  • NP_076433.3:p.Leu249Phe
  • NC_000019.9:g.15794400C>T
  • NM_023944.3:c.745C>T
  • NR_117085.2:n.813C>T
Protein change:
L249F
Molecular consequence:
  • NM_023944.4:c.745C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_117085.2:n.813C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003610113Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 16, 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, SCV003610113.2

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

Description

The c.745C>T (p.L249F) alteration is located in exon 7 (coding exon 6) of the CYP4F12 gene. This alteration results from a C to T substitution at nucleotide position 745, causing the leucine (L) at amino acid position 249 to be replaced by a phenylalanine (F). 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: Oct 26, 2024