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NM_015865.7(SLC14A1):c.510del (p.Lys170fs) AND BLOOD GROUP--KIDD SYSTEM

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002221430.1

Allele description [Variation Report for NM_015865.7(SLC14A1):c.510del (p.Lys170fs)]

NM_015865.7(SLC14A1):c.510del (p.Lys170fs)

Gene:
SLC14A1:solute carrier family 14 member 1 (Kidd blood group) [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.3
Genomic location:
Preferred name:
NM_015865.7(SLC14A1):c.510del (p.Lys170fs)
HGVS:
  • NC_000018.10:g.45736495del
  • NG_011775.4:g.54471del
  • NM_001128588.4:c.678del
  • NM_001146036.3:c.510del
  • NM_001146037.1:c.678del
  • NM_001308278.2:c.195del
  • NM_001308279.2:c.114del
  • NM_015865.7:c.510delMANE SELECT
  • NP_001122060.3:p.Lys226fs
  • NP_001139508.2:p.Lys170fs
  • NP_001139509.1:p.Lys226fs
  • NP_001295207.1:p.Lys65fs
  • NP_001295208.1:p.Lys38fs
  • NP_056949.4:p.Lys170fs
  • LRG_802t1:c.510del
  • LRG_802:g.54471del
  • LRG_802p1:p.Lys170fs
  • NC_000018.9:g.43316460del
  • NM_015865.7:c.510delAMANE SELECT
Protein change:
K170fs
Links:
dbSNP: rs751692991
NCBI 1000 Genomes Browser:
rs751692991
Molecular consequence:
  • NM_001128588.4:c.678del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001146036.3:c.510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001146037.1:c.678del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308278.2:c.195del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308279.2:c.114del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015865.7:c.510del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
unknown functional consequence

Condition(s)

Name:
BLOOD GROUP--KIDD SYSTEM (JK)
Identifiers:
MedGen: C0022645; OMIM: 111000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002498596Australian Red Cross Blood Service
no assertion criteria provided
Uncertain significanceinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From Australian Red Cross Blood Service, SCV002498596.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided

Description

serology was JK:-3 (supported by UREA lysis test resistance). Sequencing showed sample was homozygous for JK:2 determining snp and heterozygous for c.342-1G>A which is known to cause JK:-3 phenotype. The additional presence of c.510delA at a heterozygous level supports that c.510delA also causes JK:-3 phenotype. This is therefore an apparent compound heterozygote giving rise to JK:-3.

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

Last Updated: Apr 23, 2022