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NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 7, 2014
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:
RCV002392931.2

Allele description [Variation Report for NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)]

NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)

Gene:
FANCB:FA complementation group B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
Other names:
p.Lys498Asn
HGVS:
  • NC_000023.11:g.14850507C>A
  • NG_007310.1:g.27556G>T
  • NM_001018113.3:c.1494G>TMANE SELECT
  • NM_001324162.2:c.1494G>T
  • NM_152633.4:c.1494G>T
  • NP_001018123.1:p.Lys498Asn
  • NP_001311091.1:p.Lys498Asn
  • NP_689846.1:p.Lys498Asn
  • LRG_496t1:c.1494G>T
  • LRG_496:g.27556G>T
  • NC_000023.10:g.14868629C>A
  • NM_001018113.1:c.1494G>T
  • NM_152633.3:c.1494G>T
Protein change:
K498N
Links:
dbSNP: rs199510538
Molecular consequence:
  • NM_001018113.3:c.1494G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324162.2:c.1494G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152633.4:c.1494G>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
SCV002698771Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 7, 2014) 		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, SCV002698771.2

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

Description

The p.K498N variant (also known as c.1494G>T), located in coding exon 5 of the FANCB gene, results from a G to T substitution at nucleotide position 1494. The lysine at codon 498 is replaced by asparagine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs199510538, but a population frequency was unavailable. This variant was not reported in population based cohorts in the following databases: NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6,500 samples with coverage at this position. This amino acid position is not conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence for this variant is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Apr 12, 2026

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