NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 11, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000236955.5

Allele description [Variation Report for NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)]

NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)

Gene:
FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
HGVS:
  • NC_000012.12:g.32640381G>A
  • NG_008626.2:g.245853G>A
  • NM_001304481.1:c.2404G>A
  • NM_001304484.2:c.1117G>A
  • NM_001330373.2:c.1870G>A
  • NM_001330374.2:c.1870G>A
  • NM_001370297.1:c.1597G>A
  • NM_001370298.3:c.2560G>AMANE SELECT
  • NM_001384126.1:c.2560G>A
  • NM_001384127.1:c.2149G>A
  • NM_001384128.1:c.2149G>A
  • NM_001384130.1:c.1870G>A
  • NM_001385118.1:c.2149G>A
  • NM_139241.3:c.2149G>A
  • NP_001291410.1:p.Val802Met
  • NP_001291413.1:p.Val373Met
  • NP_001317302.1:p.Val624Met
  • NP_001317303.1:p.Val624Met
  • NP_001357226.1:p.Val533Met
  • NP_001357227.2:p.Val854Met
  • NP_001371055.1:p.Val854Met
  • NP_001371056.1:p.Val717Met
  • NP_001371057.1:p.Val717Met
  • NP_001371059.1:p.Val624Met
  • NP_001372047.1:p.Val717Met
  • NP_640334.2:p.Val717Met
  • LRG_240t1:c.2149G>A
  • LRG_240t2:c.2404G>A
  • LRG_240:g.245853G>A
  • LRG_240p1:p.Val717Met
  • LRG_240p2:p.Val802Met
  • NC_000012.11:g.32793315G>A
  • NM_139241.2:c.2149G>A
Protein change:
V373M
Links:
dbSNP: rs61753359
NCBI 1000 Genomes Browser:
rs61753359
Molecular consequence:
  • NM_001304481.1:c.2404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304484.2:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330373.2:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330374.2:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370297.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370298.3:c.2560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384126.1:c.2560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384127.1:c.2149G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384128.1:c.2149G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384130.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385118.1:c.2149G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139241.3:c.2149G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603702ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Mar 11, 2017)
germlineclinical testing

Citation Link,

SCV000613275Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Sep 13, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603702.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV000613275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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