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NC_000001.10:g.(?_158581054)_(158819027_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 24, 2022
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:
RCV004579114.2

Allele description [Variation Report for NC_000001.10:g.(?_158581054)_(158819027_?)del]

NC_000001.10:g.(?_158581054)_(158819027_?)del

Genes:
  • MNDA:myeloid cell nuclear differentiation antigen [Gene - OMIM - HGNC]
  • OR6K2:olfactory receptor family 6 subfamily K member 2 [Gene - HGNC]
  • OR6K3:olfactory receptor family 6 subfamily K member 3 [Gene - HGNC]
  • OR6K6:olfactory receptor family 6 subfamily K member 6 [Gene - HGNC]
  • OR6N1:olfactory receptor family 6 subfamily N member 1 [Gene - HGNC]
  • OR6N2:olfactory receptor family 6 subfamily N member 2 [Gene - HGNC]
  • SPTA1:spectrin alpha, erythrocytic 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q23.1
Genomic location:
Chr1: 158581054 - 158819027 (on Assembly GRCh37)
Preferred name:
NC_000001.10:g.(?_158581054)_(158819027_?)del
HGVS:
NC_000001.10:g.(?_158581054)_(158819027_?)del

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
SCV005066627Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 24, 2022) 		unknownclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.

Vives-Corrons JL, Krishnevskaya E, Hernández-Rodriguez I, Payán-Pernia S, Sevilla ÁFR, Badell I.

Ann Hematol. 2022 Mar;101(3):549-555. doi: 10.1007/s00277-021-04723-5. Epub 2021 Nov 29.

PubMed [citation]
PMID:
34845540

Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia.

Fournier CM, Nicolas G, Gallagher PG, Dhermy D, Grandchamp B, Lecomte MC.

Blood. 1997 Jun 15;89(12):4584-90.

PubMed [citation]
PMID:
9192783
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005066627.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with SPTA1-related conditions (PMID: 31333484, 34845540). A gross deletion of the genomic region encompassing the full coding sequence of the SPTA1 gene has been identified. Loss-of-function variants in SPTA1 are known to be pathogenic (PMID: 9192783, 18815189, 31333484, 31723846, 32266426). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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

Last Updated: Sep 29, 2024