NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 2, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)]

NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)

FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)
  • NC_000012.12:g.32576322C>A
  • NG_008626.2:g.181794C>A
  • NM_001304481.1:c.220C>A
  • NM_001304483.2:c.-880C>A
  • NM_001304484.2:c.-1187C>A
  • NM_001330373.2:c.-187-5638C>A
  • NM_001330374.2:c.-187-5638C>A
  • NM_001370297.1:c.48+12033C>A
  • NM_001370298.3:c.376C>AMANE SELECT
  • NM_001384126.1:c.376C>A
  • NM_001384127.1:c.-36C>A
  • NM_001384128.1:c.-36C>A
  • NM_001384130.1:c.-187-5638C>A
  • NM_001384131.1:c.-36C>A
  • NM_001384132.1:c.-36C>A
  • NM_001385118.1:c.-36C>A
  • NM_139241.3:c.-36C>A
  • NP_001291410.1:p.Pro74Thr
  • NP_001357227.2:p.Pro126Thr
  • NP_001371055.1:p.Pro126Thr
  • LRG_240t1:c.-36C>A
  • LRG_240t2:c.220C>A
  • LRG_240:g.181794C>A
  • LRG_240p2:p.Pro74Thr
  • NC_000012.11:g.32729256C>A
  • NM_139241.2:c.-36C>A
Protein change:
dbSNP: rs199744649
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001304483.2:c.-880C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304484.2:c.-1187C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001384127.1:c.-36C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001384128.1:c.-36C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001384131.1:c.-36C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001384132.1:c.-36C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001385118.1:c.-36C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_139241.3:c.-36C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001330373.2:c.-187-5638C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330374.2:c.-187-5638C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370297.1:c.48+12033C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384130.1:c.-187-5638C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304481.1:c.220C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370298.3:c.376C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384126.1:c.376C>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001248880CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Sep 1, 2019)
germlineclinical testing

Citation Link,

SCV001477249Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Jul 2, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing



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]

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248880.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Athena Diagnostics Inc, SCV001477249.1

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

Last Updated: Nov 27, 2021

Support Center