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NM_001528.4(HGFAC):c.1460T>C (p.Leu487Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 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:
RCV004317258.1

Allele description [Variation Report for NM_001528.4(HGFAC):c.1460T>C (p.Leu487Pro)]

NM_001528.4(HGFAC):c.1460T>C (p.Leu487Pro)

Gene:
HGFAC:HGF activator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_001528.4(HGFAC):c.1460T>C (p.Leu487Pro)
HGVS:
  • NC_000004.12:g.3447596T>C
  • NM_001297439.2:c.1481T>C
  • NM_001528.4:c.1460T>CMANE SELECT
  • NP_001284368.1:p.Leu494Pro
  • NP_001519.1:p.Leu487Pro
  • NC_000004.11:g.3449323T>C
  • NM_001528.2:c.1460T>C
Protein change:
L487P
Molecular consequence:
  • NM_001297439.2:c.1481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001528.4:c.1460T>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
SCV003981412Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 16, 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, SCV003981412.2

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

Description

The c.1460T>C (p.L487P) alteration is located in exon 11 (coding exon 11) of the HGFAC gene. This alteration results from a T to C substitution at nucleotide position 1460, causing the leucine (L) at amino acid position 487 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: Oct 26, 2024