NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 21, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000115764.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)]

NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
HGVS:
  • NC_000001.11:g.45329316del
  • NG_008189.1:g.16155del
  • NM_001048171.2:c.1556del
  • NM_001048172.2:c.1559del
  • NM_001048173.2:c.1556del
  • NM_001048174.2:c.1556delMANE SELECT
  • NM_001128425.1:c.1640del
  • NM_001128425.2:c.1640del
  • NM_001293190.2:c.1601del
  • NM_001293191.2:c.1589del
  • NM_001293192.2:c.1280del
  • NM_001293195.2:c.1556del
  • NM_001293196.2:c.1280del
  • NM_001350650.2:c.1211del
  • NM_001350651.2:c.1211del
  • NM_012222.3:c.1631del
  • NP_001041636.2:p.Ala519fs
  • NP_001041637.1:p.Ala520fs
  • NP_001041638.1:p.Ala519fs
  • NP_001041639.1:p.Ala519fs
  • NP_001121897.1:p.Ala547fs
  • NP_001121897.1:p.Ala547fs
  • NP_001280119.1:p.Ala534fs
  • NP_001280120.1:p.Ala530fs
  • NP_001280121.1:p.Ala427fs
  • NP_001280124.1:p.Ala519fs
  • NP_001280125.1:p.Ala427fs
  • NP_001337579.1:p.Ala404fs
  • NP_001337580.1:p.Ala404fs
  • NP_036354.1:p.Ala544fs
  • LRG_220t1:c.1640del
  • LRG_220:g.16155del
  • LRG_220p1:p.Ala547fs
  • NC_000001.10:g.45794988del
  • NM_001048171.1:c.1598delC
  • NM_001128425.1:c.1640delC
  • NR_146882.2:n.1964del
  • NR_146883.2:n.1813del
  • p.A547EfsX24
Protein change:
A404fs
Links:
dbSNP: rs587780086
NCBI 1000 Genomes Browser:
rs587780086
Molecular consequence:
  • NM_001048171.2:c.1556del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.2:c.1559del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.2:c.1556del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.2:c.1556del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.1:c.1640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.2:c.1640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.2:c.1601del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.2:c.1589del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293192.2:c.1280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.2:c.1556del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293196.2:c.1280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.1211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350651.2:c.1211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.3:c.1631del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146882.2:n.1964del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1813del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000149673GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 21, 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, SCV000149673.5

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

Description

This variant is denoted MUTYH c.1640delC at the cDNA level and p.Ala547GlufsX24 (A547EfsX24) at the protein level. The normal sequence, with the base that is deleted in brackets, is AGTG[C]AGCC. The deletion causes a frameshift in codon 547, which changes an Alanine to a Glutamic Acid, resulting in in the loss of a native stop codon, replacing the last 3 amino acids and likely causing the protein to be extended by 20 more amino acids on the new reading frame. MUTYH Ala547GlufsX24 has not, to our knowledge, been published in the literature as pathogenic or benign. This variant has not been observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Despite the frameshift nature of this variant, its location at the end of the protein might not cause a deleterious effect on protein structure or function. Therefore, with the data currently available, we consider MUTYH Ala547GlufsX24 to be a variant of uncertain significance.

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

Last Updated: Oct 30, 2021

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