NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) AND Bamforth-Lazarus syndrome

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Apr 9, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000988238.4

Allele description [Variation Report for NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)]

NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)

Gene:

FOXE1:forkhead box E1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.33

Genomic location:

Preferred name:

NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)

HGVS:

NC_000009.12:g.97854657C>G
NG_011979.1:g.6403C>G
NM_004473.3:c.743C>G
NM_004473.4:c.743C>GMANE SELECT
NP_004464.2:p.Ala248Gly
NC_000009.11:g.100616939C>G
NM_004473.4:c.743C>G
O00358:p.Ala248Gly

Protein change:

A248G; ALA248GLY

Links:

UniProtKB: O00358#VAR_075981; OMIM: 602617.0004; dbSNP: rs538912281

NCBI 1000 Genomes Browser:

rs538912281

Molecular consequence:

NM_004473.4:c.743C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bamforth-Lazarus syndrome
Synonyms:: Bamforth syndrome; Hypothyroidism cleft palate Hypothyroidism, athyroidal, with spiky hair and cleft palate
Identifiers:: MONDO: MONDO:0009437; MedGen: C1855794; Orphanet: 1226; OMIM: 241850

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001137879	Mendelics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 9, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004234837	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 23, 2019)	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

SCV001137879

Mendelics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 9, 2024)

unknown

clinical testing

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

SCV004234837

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 23, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	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 Mendelics, SCV001137879.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV004234837.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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