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NM_000511.6(FUT2):c.659G>A (p.Arg220Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 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:
RCV004349452.1

Allele description [Variation Report for NM_000511.6(FUT2):c.659G>A (p.Arg220Gln)]

NM_000511.6(FUT2):c.659G>A (p.Arg220Gln)

Genes:
FUT2:fucosyltransferase 2 (H blood group) [Gene - OMIM - HGNC]
LOC105447645:uncharacterized LOC105447645 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_000511.6(FUT2):c.659G>A (p.Arg220Gln)
HGVS:
  • NC_000019.10:g.48703615G>A
  • NG_007511.1:g.12645G>A
  • NM_000511.6:c.659G>AMANE SELECT
  • NM_001097638.3:c.659G>A
  • NP_000502.4:p.Arg220Gln
  • NP_001091107.1:p.Arg220Gln
  • LRG_811t1:c.659G>A
  • LRG_811:g.12645G>A
  • LRG_811p1:p.Arg220Gln
  • NC_000019.9:g.49206872G>A
  • NM_000511.5:c.659G>A
  • NR_131188.1:n.234C>T
Protein change:
R220Q
Molecular consequence:
  • NM_000511.6:c.659G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097638.3:c.659G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_131188.1:n.234C>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
SCV004061056Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 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, SCV004061056.2

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

Description

The c.659G>A (p.R220Q) alteration is located in exon 2 (coding exon 1) of the FUT2 gene. This alteration results from a G to A substitution at nucleotide position 659, causing the arginine (R) at amino acid position 220 to be replaced by a glutamine (Q). 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