NM_012335.4(MYO1F):c.-123G>A AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 10, 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:: RCV001769728.2

Allele description [Variation Report for NM_012335.4(MYO1F):c.-123G>A]

NM_012335.4(MYO1F):c.-123G>A

Genes:

LOC130063440:ATAC-STARR-seq lymphoblastoid silent region 10033 [Gene]
MYO1F:myosin IF [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_012335.4(MYO1F):c.-123G>A

HGVS:

NC_000019.10:g.8577432C>T
NG_052844.1:g.5016G>A
NM_001348355.2:c.-123G>A
NM_012335.4:c.-123G>AMANE SELECT
NC_000019.9:g.8642316C>T

Links:

dbSNP: rs377558428

NCBI 1000 Genomes Browser:

rs377558428

Molecular consequence:

NM_001348355.2:c.-123G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_012335.4:c.-123G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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protein-glutamine gamma-glutamyltransferase Z isoform X1 [Homo sapiens]
protein-glutamine gamma-glutamyltransferase Z isoform X1 [Homo sapiens]
gi|1034589650|ref|XP_016877392.1|

Protein
Procnias albus voucher USNM:Birds:632450 cytochrome oxidase subunit 1 (COI) gene...
Procnias albus voucher USNM:Birds:632450 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|359284237|gnl|uoguelph|USNMK257- I-5P|gb|JQ175983.1|

Nucleotide
LOC127275147 [Homo sapiens]
LOC127275147 [Homo sapiens]
Gene ID:127275147

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002004631	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002004631

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 10, 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, SCV002004631.2

#	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: Dec 24, 2023

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