NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Mar 3, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV001547807.6

Allele description [Variation Report for NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)]

NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)

Gene:

FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

Preferred name:

NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)

HGVS:

NC_000007.14:g.128843513G>A
NG_011807.1:g.18085G>A
NM_001127487.2:c.2747G>A
NM_001458.5:c.2747G>AMANE SELECT
NP_001120959.1:p.Arg916Gln
NP_001449.3:p.Arg916Gln
NP_001449.3:p.Arg916Gln
LRG_870t1:c.2747G>A
LRG_870:g.18085G>A
LRG_870p1:p.Arg916Gln
NC_000007.13:g.128483567G>A
NM_001458.4:c.2747G>A

Protein change:

R916Q

Links:

dbSNP: rs143720860

NCBI 1000 Genomes Browser:

rs143720860

Molecular consequence:

NM_001127487.2:c.2747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001458.5:c.2747G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Glucosamine kinase GspK [Vibrio parahaemolyticus]
Glucosamine kinase GspK [Vibrio parahaemolyticus]
gi|2734791749|emb|CAI2343473.1||gnl CAMP|CAI2343473

Protein
Homo sapiens (ALS2CR8), mRNA
Homo sapiens (ALS2CR8), mRNA
gi|18250291|ref|NM_024744.2|

Nucleotide
Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candi...
Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA
gi|20799886|ref|NM_024744.9|

Nucleotide
RecName: Full=Alpha-(1,6)-fucosyltransferase; Short=Alpha1-6FucT; AltName: Full=...
RecName: Full=Alpha-(1,6)-fucosyltransferase; Short=Alpha1-6FucT; AltName: Full=Fucosyltransferase 8; AltName: Full=GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase; AltName: Full=GDP-fucose--glycoprotein fucosyltransferase; AltName: Full=Glycoprotein 6-alpha-L-fucosyltransferase
gi|1099384219|sp|G5EFE7.1|FUT8_CAEE

Protein

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
SCV001767599	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Feb 11, 2021)	germline	clinical testing	Citation Link,
SCV003833080	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 3, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001767599

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Feb 11, 2021)

germline

clinical testing

Citation Link,

SCV003833080

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 3, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV001767599.1

#	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

From Revvity Omics, Revvity, SCV003833080.2

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

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine