NM_005246.4(FER):c.950T>C (p.Met317Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 2024
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:: RCV004391742.1

Allele description [Variation Report for NM_005246.4(FER):c.950T>C (p.Met317Thr)]

NM_005246.4(FER):c.950T>C (p.Met317Thr)

Gene:

FER:FER tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q21.3

Genomic location:

Preferred name:

NM_005246.4(FER):c.950T>C (p.Met317Thr)

HGVS:

NC_000005.10:g.108883422T>C
NG_011445.2:g.140601T>C
NM_001308028.2:c.425T>C
NM_005246.4:c.950T>CMANE SELECT
NP_001294957.1:p.Met142Thr
NP_005237.2:p.Met317Thr
NC_000005.9:g.108219123T>C
NM_005246.2:c.950T>C
NR_146155.2:n.1055T>C

Protein change:

M142T

Molecular consequence:

NM_001308028.2:c.425T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005246.4:c.950T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_146155.2:n.1055T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Aspergillus fumigatus Af293 uncharacterized protein (AFUA_7G08231), partial mRNA
Aspergillus fumigatus Af293 uncharacterized protein (AFUA_7G08231), partial mRNA
gi|146324893|ref|XM_743699.2|

Nucleotide
trnac-gca [Echeneis naucrates]
trnac-gca [Echeneis naucrates]
Gene ID:115048254

Gene
Complement C3-C5 Convertases
Complement C3-C5 Convertases
Serine proteases that cleave COMPLEMENT C3 into COMPLEMENT C3A and COMPLEMENT C3B, or cleave COMPLEMENT C5 into COMPLEMENT C5A and COMPLEMENT C5B. These include the different ...<br/>Year introduced: 2006 (1978)

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004867803	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 13, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004867803

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 13, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004867803.1

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

Description

The c.950T>C (p.M317T) alteration is located in exon 9 (coding exon 7) of the FER gene. This alteration results from a T to C substitution at nucleotide position 950, causing the methionine (M) at amino acid position 317 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine