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NM_018055.5(NODAL):c.555dup (p.Thr186fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Mar 9, 2020
Most recent Submission:
Mar 9, 2020
Accession:
VCV000690399.2
Variation ID:
690399
Description:
1bp duplication
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NM_018055.5(NODAL):c.555dup (p.Thr186fs)

Allele ID
678084
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 70435621-70435622 (GRCh38) GRCh38 UCSC
10: 72195377-72195378 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_018055.5:c.555dup MANE Select NP_060525.3:p.Thr186fs frameshift
NM_001329906.2:c.156dup NP_001316835.1:p.Thr53fs frameshift
NC_000010.11:g.70435627dup
... more HGVS
Protein change
T186fs, T53fs
Other names
-
Canonical SPDI
NC_000010.11:70435621:GGGGGG:GGGGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs772802856
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 - RCV001007638.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NODAL Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37 		135 154

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Uncertain significance
(-)
 criteria provided, single submitter
(ACMG Guidelines, 2015)
Method: clinical testing
(Autosomal dominant inheritance)
Affected status: yes
Allele origin: paternal
Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre
Accession: SCV000992316.1
First in ClinVar: Mar 09, 2020
Last updated: Mar 09, 2020
Zygosity: 1 Single Heterozygote

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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Title Author Journal Year Link
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis. Alanzi T European journal of human genetics : EJHG 2020 PMID: 31570783

Text-mined citations for rs772802856...

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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 Apr 25, 2022 

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