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NM_000342.4(SLC4A1):c.2655+2_2655+3del AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jul 25, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002284232.13

Allele description [Variation Report for NM_000342.4(SLC4A1):c.2655+2_2655+3del]

NM_000342.4(SLC4A1):c.2655+2_2655+3del

Gene:
SLC4A1:solute carrier family 4 member 1 (Diego blood group) [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000342.4(SLC4A1):c.2655+2_2655+3del
HGVS:
  • NC_000017.11:g.44251157AC[2]
  • NG_007498.1:g.21974TG[2]
  • NM_000342.4:c.2655+2_2655+3delMANE SELECT
  • LRG_803t1:c.2655+2_2655+3del
  • LRG_803:g.21974TG[2]
  • NC_000017.10:g.42328525AC[2]
  • NM_000342.3:c.2655+2_2655+3del
  • NM_000342.3:c.2655+2_2655+3delTG
Molecular consequence:
  • NM_000342.4:c.2655+2_2655+3del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002573760Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 21, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV004238684Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 25, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

A novel SLC4A1 splice variant (c.2655+2_2655+3 del) in hereditary spherocytosis.

Kima ED, Mugnaini EN, Nava VE.

Int J Lab Hematol. 2021 Oct;43(5):e242-e243. doi: 10.1111/ijlh.13458. Epub 2021 Jan 20. No abstract available.

PubMed [citation]
PMID:
33470548

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV002573760.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

PM2, PVS1

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

From Revvity Omics, Revvity, SCV004238684.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024