NM_007255.3(B4GALT7):c.313T>G (p.Phe105Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 11, 2017
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:: RCV000493088.1

Allele description [Variation Report for NM_007255.3(B4GALT7):c.313T>G (p.Phe105Val)]

NM_007255.3(B4GALT7):c.313T>G (p.Phe105Val)

Gene:

B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_007255.3(B4GALT7):c.313T>G (p.Phe105Val)

HGVS:

NC_000005.10:g.177604441T>G
NG_015977.1:g.9324T>G
NM_007255.3:c.313T>GMANE SELECT
NP_009186.1:p.Phe105Val
NC_000005.9:g.177031442T>G
NM_007255.2:c.313T>G

Protein change:

F105V

Links:

dbSNP: rs1131691521

NCBI 1000 Genomes Browser:

rs1131691521

Molecular consequence:

NM_007255.3:c.313T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000582297	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (May 11, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000582297

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(May 11, 2017)

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, SCV000582297.4

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

Description

The F105V variant has not beenpublished as pathogenic or been reported as benign to our knowledge. Furthermore, it is not observed in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F105Vvariant is a semi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. Moreover, this substitution occurs at a position that is conserved across species,and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nonetheless, thisvariant lacks observation in a significant number of affected individuals, segregation data, and functional evidence,which would further clarify its pathogenicity.

#	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: Apr 23, 2022

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