Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 25, 2021)
Last evaluated:
May 5, 2020
Accession:
VCV000197191.7
Variation ID:
197191
Description:
single nucleotide variant
Help

NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)

Allele ID
194352
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 75568961 (GRCh38) GRCh38 UCSC
11: 75280006 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.75280006C>T
NC_000011.10:g.75568961C>T
NG_012052.1:g.11837C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:75568960:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00171
Exome Aggregation Consortium (ExAC) 0.00317
1000 Genomes Project 0.00160
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00223
The Genome Aggregation Database (gnomAD), exomes 0.00325
The Genome Aggregation Database (gnomAD) 0.00392
Links
ClinGen: CA202738
dbSNP: rs61733248
VarSome
Help

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 Dec 31, 2019 RCV000757756.5
Benign 1 criteria provided, single submitter Apr 2, 2015 RCV000178158.4
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000388996.2
Benign 1 criteria provided, single submitter May 5, 2020 RCV001283425.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SERPINH1 - - GRCh38
GRCh37
107 116

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230164.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Osteogenesis imperfecta type 10
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374096.3
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
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001038978.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(May 05, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000886101.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(May 20, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000728819.1
Submitted: (Sep 25, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SERPINH1 - - - -

Text-mined citations for rs61733248...

Help
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 Nov 11, 2021