NM_145178.4(ATOH7):c.176C>T (p.Ala59Val) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 14, 2019
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:: RCV001003480.2

Allele description [Variation Report for NM_145178.4(ATOH7):c.176C>T (p.Ala59Val)]

NM_145178.4(ATOH7):c.176C>T (p.Ala59Val)

Gene:

ATOH7:atonal bHLH transcription factor 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_145178.4(ATOH7):c.176C>T (p.Ala59Val)

HGVS:

NC_000010.11:g.68231502G>A
NG_031934.1:g.5612C>T
NM_145178.4:c.176C>TMANE SELECT
NP_660161.1:p.Ala59Val
NC_000010.10:g.69991259G>A
NM_145178.3:c.176C>T

Protein change:

A59V

Links:

dbSNP: rs754494518

NCBI 1000 Genomes Browser:

rs754494518

Molecular consequence:

NM_145178.4:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Foveal hypoplasia
Synonyms:: Hypoplasia of the fovea
Identifiers:: MONDO: MONDO:0044203; MedGen: C2673946; OMIM: PS136520; Human Phenotype Ontology: HP:0007750

Name:: Optic nerve hypoplasia
Identifiers:: MedGen: C0338502; Human Phenotype Ontology: HP:0000609

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001161773	Institute of Medical Molecular Genetics, University of Zurich	no assertion criteria provided	Pathogenic (Aug 14, 2019)	unknown, paternal, maternal, germline	clinical testing, in vitro	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001161773

Institute of Medical Molecular Genetics, University of Zurich

no assertion criteria provided

Pathogenic
(Aug 14, 2019)

unknown, paternal, maternal, germline

clinical testing, in vitro

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	no	1	not provided	not provided	1	yes	clinical testing
not provided	unknown	no	1	not provided	not provided	1	yes	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	in vitro

Citations

PubMed

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Atac D, Koller S, Hanson JVM, Feil S, Tiwari A, Bahr A, Baehr L, Magyar I, Kottke R, Gerth-Kahlert C, Berger W.

Hum Mol Genet. 2020 Jan 1;29(1):132-148. doi: 10.1093/hmg/ddz268.

PubMed [citation]

PMID:: 31696227

Details of each submission

From Institute of Medical Molecular Genetics, University of Zurich, SCV001161773.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	clinical testing	PubMed (1)
2	not provided	1	not provided	yes	clinical testing	PubMed (1)
3	not provided	1	not provided	yes	clinical testing	PubMed (1)
4	not provided	1	not provided	yes	clinical testing	PubMed (1)
5	not provided	1	not provided	yes	clinical testing	PubMed (1)
6	not provided	1	not provided	yes	clinical testing	PubMed (1)
7	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	1	not provided	discovery		1	not provided	not provided	not provided
2	maternal	no	1	not provided	discovery		1	not provided	not provided	not provided
3	paternal	yes	1	not provided	discovery		1	not provided	not provided	not provided
4	maternal	yes	1	not provided	discovery		1	not provided	not provided	not provided
5	paternal	yes	1	not provided	discovery		1	not provided	not provided	not provided
6	maternal	yes	1	not provided	discovery		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine