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NM_014967.5(FAN1):c.1090A>C (p.Asn364His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 2016
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:
RCV000413270.1

Allele description [Variation Report for NM_014967.5(FAN1):c.1090A>C (p.Asn364His)]

NM_014967.5(FAN1):c.1090A>C (p.Asn364His)

Gene:
FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q13.3
Genomic location:
Preferred name:
NM_014967.5(FAN1):c.1090A>C (p.Asn364His)
HGVS:
  • NC_000015.10:g.30905753A>C
  • NG_032946.2:g.6902A>C
  • NM_001146094.2:c.1090A>C
  • NM_001146095.1:c.1090A>C
  • NM_001146096.2:c.1090A>C
  • NM_014967.5:c.1090A>CMANE SELECT
  • NP_001139566.1:p.Asn364His
  • NP_001139567.1:p.Asn364His
  • NP_001139568.1:p.Asn364His
  • NP_055782.3:p.Asn364His
  • NC_000015.9:g.31197956A>C
  • NM_014967.4:c.1090A>C
Protein change:
N364H
Links:
dbSNP: rs187082481
NCBI 1000 Genomes Browser:
rs187082481
Molecular consequence:
  • NM_001146094.2:c.1090A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001146095.1:c.1090A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001146096.2:c.1090A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014967.5:c.1090A>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
SCV000491884GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 16, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491884.1

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

Description

The N364H variant in the FAN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N364H variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The N364H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret N364H as a variant of uncertain significance.

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

Last Updated: Oct 8, 2024