NM_001037.5(SCN1B):c.448+167C>G AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 16, 2018
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:: RCV001637986.3

Allele description [Variation Report for NM_001037.5(SCN1B):c.448+167C>G]

NM_001037.5(SCN1B):c.448+167C>G

Gene:

SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

Preferred name:

NM_001037.5(SCN1B):c.448+167C>G

HGVS:

NC_000019.10:g.35033906C>G
NG_013359.1:g.8219C>G
NM_001037.5:c.448+167C>GMANE SELECT
NM_001321605.2:c.349+167C>G
NM_199037.5:c.615C>G
NP_950238.1:p.Leu205=
LRG_420t1:c.448+167C>G
LRG_420:g.8219C>G
NC_000019.9:g.35524810C>G
NM_199037.3:c.615C>G

Links:

dbSNP: rs529053826

NCBI 1000 Genomes Browser:

rs529053826

Molecular consequence:

NM_001037.5:c.448+167C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001321605.2:c.349+167C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_199037.5:c.615C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 1, mRNA
Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 1, mRNA
gi|1519244557|ref|NM_153370.3|

Nucleotide
PREDICTED: Homo sapiens NIMA related kinase 4 (NEK4), transcript variant X5, mRN...
PREDICTED: Homo sapiens NIMA related kinase 4 (NEK4), transcript variant X5, mRNA
gi|2217345655|ref|XM_011534040.4|

Nucleotide
Microbe sample from Ganoderma resinaceum
Microbe sample from Ganoderma resinaceum

biosample
DC146684 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst41a...
DC146684 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst41a18 3', mRNA sequence
gi|119055791|gnl|dbEST|43326308|dbj 6684.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001851269	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 16, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001851269

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Nov 16, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001851269.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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