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NM_000037.4(ANK1):c.2960+1G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 3, 2020
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:
RCV001509341.5

Allele description [Variation Report for NM_000037.4(ANK1):c.2960+1G>A]

NM_000037.4(ANK1):c.2960+1G>A

Gene:
ANK1:ankyrin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_000037.4(ANK1):c.2960+1G>A
HGVS:
  • NC_000008.11:g.41696362C>T
  • NG_012820.2:g.205401G>A
  • NM_000037.4:c.2960+1G>AMANE SELECT
  • NM_001142446.2:c.3083+1G>A
  • NM_020475.3:c.2960+1G>A
  • NM_020476.3:c.2960+1G>A
  • NM_020477.3:c.2960+1G>A
  • NC_000008.10:g.41553880C>T
  • NM_000037.3:c.2960+1G>A
Links:
dbSNP: rs2150596703
NCBI 1000 Genomes Browser:
rs2150596703
Molecular consequence:
  • NM_000037.4:c.2960+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001142446.2:c.3083+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_020475.3:c.2960+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_020476.3:c.2960+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_020477.3:c.2960+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001715991Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 3, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.

Agarwal AM, Nussenzveig RH, Reading NS, Patel JL, Sangle N, Salama ME, Prchal JT, Perkins SL, Yaish HM, Christensen RD.

Br J Haematol. 2016 Sep;174(5):806-14. doi: 10.1111/bjh.14131. Epub 2016 Jun 12.

PubMed [citation]
PMID:
27292444

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, SCV001715991.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

PVS1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024