NM_003106.4(SOX2):c.241del (p.Leu81fs) AND Anophthalmia/microphthalmia-esophageal atresia syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 22, 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:: RCV002289371.2

Allele description [Variation Report for NM_003106.4(SOX2):c.241del (p.Leu81fs)]

NM_003106.4(SOX2):c.241del (p.Leu81fs)

Genes:

LOC108281177:SOX2 5' regulatory region [Gene]
SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q26.33

Genomic location:

Preferred name:

NM_003106.4(SOX2):c.241del (p.Leu81fs)

HGVS:

NC_000003.12:g.181712601del
NG_009080.1:g.5668del
NM_003106.4:c.241delMANE SELECT
NP_003097.1:p.Leu81Phefs
NP_003097.1:p.Leu81fs
LRG_719t1:c.241del
LRG_719:g.5668del
LRG_719p1:p.Leu81Phefs
NC_000003.11:g.181430389del
NM_003106.2:c.241delC

Protein change:

L81fs

Molecular consequence:

NM_003106.4:c.241del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Anophthalmia/microphthalmia-esophageal atresia syndrome (MCOPS3)
Synonyms:: Microphthalmia syndromic 3; Microphthalmia and esophageal atresia syndrome; Anophthalmia clinical with associated anomalies; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008799; MedGen: C1859773; Orphanet: 77298; OMIM: 206900

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
SCV002580190	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 22, 2022)	germline	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

SCV002580190

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 22, 2022)

germline

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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 MGZ Medical Genetics Center, SCV002580190.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine