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NM_005142.3(CBLIF):c.290T>C (p.Met97Thr)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000305040.5
Variation ID:
305040
Description:
single nucleotide variant
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NM_005142.3(CBLIF):c.290T>C (p.Met97Thr)

Allele ID
328090
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q12.1
Genomic location
11: 59843108 (GRCh38) GRCh38 UCSC
11: 59610581 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.59843108A>G
NC_000011.9:g.59610581A>G
NM_005142.3:c.290T>C MANE Select NP_005133.2:p.Met97Thr missense
NG_008120.1:g.7394T>C
Protein change
M97T
Other names
-
Canonical SPDI
NC_000011.10:59843107:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00534
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00739
Exome Aggregation Consortium (ExAC) 0.00889
The Genome Aggregation Database (gnomAD), exomes 0.00900
1000 Genomes Project 0.00280
The Genome Aggregation Database (gnomAD) 0.00956
Links
ClinGen: CA6021616
dbSNP: rs150884181
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 21, 2020 RCV000329880.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CBLIF - - GRCh38
GRCh37
75 82

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 06, 2018)
criteria provided, single submitter
Method: clinical testing
Intrinsic factor deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000372575.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Intrinsic factor deficiency
Allele origin: germline
Invitae
Accession: SCV001107000.3
Submitted: (Jan 07, 2021)
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.

Text-mined citations for rs150884181...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021