NM_004183.4(BEST1):c.712del (p.Gln238fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2019
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:: RCV000513216.21

Allele description [Variation Report for NM_004183.4(BEST1):c.712del (p.Gln238fs)]

NM_004183.4(BEST1):c.712del (p.Gln238fs)

Gene:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q12.3

Genomic location:

Preferred name:

NM_004183.4(BEST1):c.712del (p.Gln238fs)

HGVS:

NC_000011.10:g.61957462del
NG_009033.1:g.12579del
NM_001139443.2:c.532del
NM_001300786.2:c.532del
NM_001300787.2:c.532del
NM_001363591.2:c.394del
NM_001363592.1:c.712del
NM_001363593.2:c.-464del
NM_004183.4:c.712delMANE SELECT
NP_001132915.1:p.Gln178fs
NP_001287715.1:p.Gln178fs
NP_001287716.1:p.Gln178fs
NP_001350520.1:p.Gln132fs
NP_001350521.1:p.Gln238fs
NP_004174.1:p.Gln238fs
NC_000011.9:g.61724934del
NM_004183.3:c.712del
NR_134580.2:n.825del

Protein change:

Q132fs

Links:

dbSNP: rs1555100476

NCBI 1000 Genomes Browser:

rs1555100476

Molecular consequence:

NM_001363593.2:c.-464del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001139443.2:c.532del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001300786.2:c.532del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001300787.2:c.532del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363591.2:c.394del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363592.1:c.712del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004183.4:c.712del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_134580.2:n.825del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000608593	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Jan 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000608593

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Jan 1, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000608593.26

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	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		3	not provided	not provided	not provided

Last Updated: May 12, 2024

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