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NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Oct 21, 2019
Accession:
VCV000966180.2
Variation ID:
966180
Description:
single nucleotide variant
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NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)

Allele ID
957811
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56501421 (GRCh38) GRCh38 UCSC
16: 56535333 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001377456.1:c.1157C>T NP_001364385.1:p.Thr386Met missense
NM_031885.5:c.1157C>T MANE Select NP_114091.4:p.Thr386Met missense
NR_165297.1:n.1319C>T
... more HGVS
Protein change
T386M
Other names
-
Canonical SPDI
NC_000016.10:56501420:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 21, 2019 RCV001240795.1
Likely benign 1 no assertion criteria provided Sep 3, 2020 RCV001277877.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BBS2 - - GRCh38
GRCh37
457 478

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 21, 2019)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
Invitae
Accession: SCV001413769.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces threonine with methionine at codon 386 of the BBS2 protein (p.Thr386Met). The threonine residue is weakly conserved and there is a … (more)
Likely benign
(Sep 03, 2020)
no assertion criteria provided
Method: clinical testing
Bardet-Biedl syndrome type 2
Allele origin: germline
Natera, Inc.
Accession: SCV001464856.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021