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NM_004183.4(BEST1):c.172_173dup (p.Gln58fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 17, 2023
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:
RCV001389831.6

Allele description [Variation Report for NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)]

NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)

Gene:
BEST1:bestrophin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)
HGVS:
  • NC_000011.10:g.61955126_61955127dup
  • NG_009033.1:g.10243_10244dup
  • NM_001139443.2:c.-9_-8dup
  • NM_001300786.2:c.-9_-8dup
  • NM_001300787.2:c.-9_-8dup
  • NM_001363592.1:c.172_173dup
  • NM_004183.4:c.172_173dupMANE SELECT
  • NP_001350521.1:p.Gln58fs
  • NP_004174.1:p.Gln58fs
  • NC_000011.9:g.61722596_61722597insAC
  • NC_000011.9:g.61722598_61722599dup
  • NM_004183.3:c.172_173dupCA
  • NR_134580.2:n.285_286dup
Protein change:
Q58fs
Links:
dbSNP: rs672601356
NCBI 1000 Genomes Browser:
rs672601356
Molecular consequence:
  • NM_001139443.2:c.-9_-8dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001300786.2:c.-9_-8dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001300787.2:c.-9_-8dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001363592.1:c.172_173dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004183.4:c.172_173dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_134580.2:n.285_286dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001591335Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jul 17, 2023)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Childhood-onset autosomal recessive bestrophinopathy.

Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT.

Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. No abstract available.

PubMed [citation]
PMID:
21825197

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001591335.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Gln58Hisfs*4) in the BEST1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BEST1 are known to be pathogenic (PMID: 21825197). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive bestrophinopathy (PMID: 21825197). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 162042). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024