NM_001002755.2(NFU1):c.151G>T (p.Ala51Ser) AND not specified

Clinical significance:Benign (Last evaluated: Jul 14, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000196268.1

Allele description [Variation Report for NM_001002755.2(NFU1):c.151G>T (p.Ala51Ser)]

NM_001002755.2(NFU1):c.151G>T (p.Ala51Ser)

Gene:
NFU1:NFU1 iron-sulfur cluster scaffold [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_001002755.2(NFU1):c.151G>T (p.Ala51Ser)
Other names:
p.A51S:GCC>TCC
HGVS:
  • NC_000002.12:g.69431917C>A
  • NG_031931.1:g.10712G>T
  • NM_001002755.2:c.151G>T
  • NM_001002756.2:c.-137G>T
  • NP_001002755.1:p.Ala51Ser
  • NC_000002.11:g.69659049C>A
  • NR_045631.1:n.357G>T
Protein change:
A51S
Links:
dbSNP: rs76646410
NCBI 1000 Genomes Browser:
rs76646410
Molecular consequence:
  • NM_001002756.2:c.-137G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001002755.2:c.151G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045631.1:n.357G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000251954GeneDxcriteria provided, single submitter
Benign
(Jul 14, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000251954.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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