NM_025202.4(EFHD1):c.245C>T (p.Thr82Met) AND Anophthalmia-microphthalmia syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 1, 2013
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:: RCV000207392.1

Allele description [Variation Report for NM_025202.4(EFHD1):c.245C>T (p.Thr82Met)]

NM_025202.4(EFHD1):c.245C>T (p.Thr82Met)

Genes:

EFHD1:EF-hand domain family member D1 [Gene - OMIM - HGNC]
LOC122861314:Sharpr-MPRA regulatory region 9991 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_025202.4(EFHD1):c.245C>T (p.Thr82Met)

HGVS:

NC_000002.12:g.232633949C>T
NG_051251.1:g.32893C>T
NM_001243252.2:c.14+27776C>T
NM_001308395.2:c.-171C>T
NM_025202.4:c.245C>TMANE SELECT
NP_079478.1:p.Thr82Met
NC_000002.11:g.233498659C>T
NM_025202.3:c.245C>T

Protein change:

T82M

Links:

dbSNP: rs370357320

NCBI 1000 Genomes Browser:

rs370357320

Molecular consequence:

NM_001308395.2:c.-171C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001243252.2:c.14+27776C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_025202.4:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Anophthalmia-microphthalmia syndrome
Synonyms:: Anophthalmia/Microphthalmia; Anophthalmia - microphthalmia
Identifiers:: MedGen: C5680330; Orphanet: 98555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000259138	Paul Sabatier University EA-4555, Paul Sabatier University	criteria provided, single submitter (Chassaing et al. (Genome Res. 2016))	Likely benign (Jan 1, 2013)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000259138

Paul Sabatier University EA-4555, Paul Sabatier University

criteria provided, single submitter

(Chassaing et al. (Genome Res. 2016))

Likely benign
(Jan 1, 2013)

inherited

clinical testing

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	inherited	yes	1	not provided	not provided	1	no	clinical testing

Citations

PubMed

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P.

Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18.

PubMed [citation]

PMID:: 26893459
PMCID:: PMC4817771

Details of each submission

From Paul Sabatier University EA-4555, Paul Sabatier University, SCV000259138.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	1	DNA extracted from blood samples	not provided		1	not provided	not provided	not provided

Last Updated: Jan 26, 2024

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