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NM_145178.4(ATOH7):c.121_144del (p.Arg41_Arg48del) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 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:
RCV001337196.5

Allele description

NM_145178.4(ATOH7):c.121_144del (p.Arg41_Arg48del)

Gene:
ATOH7:atonal bHLH transcription factor 7 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_145178.4(ATOH7):c.121_144del (p.Arg41_Arg48del)
HGVS:
  • NC_000010.11:g.68231540_68231563del
  • NG_031934.1:g.5557_5580del
  • NM_145178.4:c.121_144delMANE SELECT
  • NP_660161.1:p.Arg41_Arg48del
  • NC_000010.10:g.69991291_69991314del
  • NC_000010.10:g.69991297_69991320del
Links:
dbSNP: rs746925570
NCBI 1000 Genomes Browser:
rs746925570
Molecular consequence:
  • NM_145178.4:c.121_144del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001530787Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 13, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy.

Kondo H, Matsushita I, Tahira T, Uchio E, Kusaka S.

Ophthalmic Genet. 2016 Dec;37(4):462-464. Epub 2016 Mar 2. No abstract available. Erratum in: Ophthalmic Genet. 2018 Aug;39(4):553. doi: 10.1080/13816810.2018.1477565.

PubMed [citation]
PMID:
26933893

Corrigendum.

[No authors listed]

Ophthalmic Genet. 2018 Aug;39(4):553. doi: 10.1080/13816810.2018.1477565. Epub 2018 May 31. No abstract available.

PubMed [citation]
PMID:
29851533
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001530787.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant, c.121_144del, results in the deletion of 8 amino acid(s) of the ATOH7 protein (p.Arg41_Arg48del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746925570, gnomAD 0.06%). This variant has been observed in individual(s) with clinical features of ATOH7-related conditions (PMID: 26933893, 29851533). ClinVar contains an entry for this variant (Variation ID: 1034468). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 11, 2023