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NM_001368894.2(PAX6):c.1308G>A (p.Gln436=) AND not specified

Germline classification:
Benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001796913.2

Allele description [Variation Report for NM_001368894.2(PAX6):c.1308G>A (p.Gln436=)]

NM_001368894.2(PAX6):c.1308G>A (p.Gln436=)

Genes:
ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.1308G>A (p.Gln436=)
HGVS:
  • NC_000011.10:g.31789937C>T
  • NG_008679.1:g.33025G>A
  • NG_034086.2:g.285172C>T
  • NM_000280.6:c.1266G>A
  • NM_001127612.3:c.1266G>A
  • NM_001258462.3:c.1308G>A
  • NM_001258463.2:c.1308G>A
  • NM_001258464.2:c.1266G>A
  • NM_001258465.3:c.1266G>A
  • NM_001288725.2:c.*6399C>T
  • NM_001288726.2:c.*6508C>T
  • NM_001310158.2:c.1308G>A
  • NM_001310160.2:c.858G>A
  • NM_001310161.3:c.858G>A
  • NM_001368887.2:c.1266G>A
  • NM_001368888.2:c.1266G>A
  • NM_001368889.2:c.1266G>A
  • NM_001368890.2:c.1266G>A
  • NM_001368891.2:c.1266G>A
  • NM_001368892.2:c.1308G>A
  • NM_001368893.2:c.1308G>A
  • NM_001368894.2:c.1308G>AMANE SELECT
  • NM_001368899.2:c.858G>A
  • NM_001368900.2:c.858G>A
  • NM_001368901.2:c.858G>A
  • NM_001368902.2:c.858G>A
  • NM_001368903.2:c.858G>A
  • NM_001368904.2:c.858G>A
  • NM_001368905.2:c.858G>A
  • NM_001368906.2:c.858G>A
  • NM_001368907.2:c.858G>A
  • NM_001368908.2:c.858G>A
  • NM_001368909.2:c.858G>A
  • NM_001368910.2:c.1509G>A
  • NM_001368911.2:c.1160G>A
  • NM_001368912.2:c.1157G>A
  • NM_001368913.2:c.1157G>A
  • NM_001368914.2:c.1157G>A
  • NM_001368915.2:c.1115G>A
  • NM_001368916.2:c.1115G>A
  • NM_001368917.2:c.1115G>A
  • NM_001368918.2:c.1383G>A
  • NM_001368919.2:c.1383G>A
  • NM_001368920.2:c.1341G>A
  • NM_001368921.2:c.956G>A
  • NM_001368922.2:c.1107G>A
  • NM_001368923.2:c.1107G>A
  • NM_001368924.2:c.1107G>A
  • NM_001368925.2:c.1107G>A
  • NM_001368926.2:c.1107G>A
  • NM_001368927.2:c.1107G>A
  • NM_001368928.2:c.1065G>A
  • NM_001368929.2:c.707G>A
  • NM_001368930.2:c.663G>A
  • NM_001604.6:c.1308G>A
  • NM_019040.5:c.*6413C>TMANE SELECT
  • NP_000271.1:p.Gln422=
  • NP_000271.1:p.Gln422=
  • NP_001121084.1:p.Gln422=
  • NP_001245391.1:p.Gln436=
  • NP_001245392.1:p.Gln436=
  • NP_001245393.1:p.Gln422=
  • NP_001245394.1:p.Gln422=
  • NP_001297087.1:p.Gln436=
  • NP_001297089.1:p.Gln286=
  • NP_001297090.1:p.Gln286=
  • NP_001355816.1:p.Gln422=
  • NP_001355817.1:p.Gln422=
  • NP_001355818.1:p.Gln422=
  • NP_001355819.1:p.Gln422=
  • NP_001355820.1:p.Gln422=
  • NP_001355821.1:p.Gln436=
  • NP_001355822.1:p.Gln436=
  • NP_001355823.1:p.Gln436=
  • NP_001355828.1:p.Gln286=
  • NP_001355829.1:p.Gln286=
  • NP_001355830.1:p.Gln286=
  • NP_001355831.1:p.Gln286=
  • NP_001355832.1:p.Gln286=
  • NP_001355833.1:p.Gln286=
  • NP_001355834.1:p.Gln286=
  • NP_001355835.1:p.Gln286=
  • NP_001355836.1:p.Gln286=
  • NP_001355837.1:p.Gln286=
  • NP_001355838.1:p.Gln286=
  • NP_001355839.1:p.Gln503=
  • NP_001355840.1:p.Ser387Asn
  • NP_001355841.1:p.Ser386Asn
  • NP_001355842.1:p.Ser386Asn
  • NP_001355843.1:p.Ser386Asn
  • NP_001355844.1:p.Ser372Asn
  • NP_001355845.1:p.Ser372Asn
  • NP_001355846.1:p.Ser372Asn
  • NP_001355847.1:p.Gln461=
  • NP_001355848.1:p.Gln461=
  • NP_001355849.1:p.Gln447=
  • NP_001355850.1:p.Ser319Asn
  • NP_001355851.1:p.Gln369=
  • NP_001355852.1:p.Gln369=
  • NP_001355853.1:p.Gln369=
  • NP_001355854.1:p.Gln369=
  • NP_001355855.1:p.Gln369=
  • NP_001355856.1:p.Gln369=
  • NP_001355857.1:p.Gln355=
  • NP_001355858.1:p.Ser236Asn
  • NP_001355859.1:p.Gln221=
  • NP_001595.2:p.Gln436=
  • LRG_720t1:c.1266G>A
  • LRG_720:g.33025G>A
  • LRG_720p1:p.Gln422=
  • NC_000011.9:g.31811485C>T
  • NM_000280.3:c.1266G>A
  • NR_160916.2:n.1496G>A
  • NR_160917.2:n.1652G>A
Protein change:
S236N
Links:
dbSNP: rs758783285
NCBI 1000 Genomes Browser:
rs758783285
Molecular consequence:
  • NM_001288725.2:c.*6399C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001288726.2:c.*6508C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_019040.5:c.*6413C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001368911.2:c.1160G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368912.2:c.1157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368913.2:c.1157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368914.2:c.1157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368915.2:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368916.2:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368917.2:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368921.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368929.2:c.707G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160916.2:n.1496G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160917.2:n.1652G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000280.6:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127612.3:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258462.3:c.1308G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258463.2:c.1308G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258464.2:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258465.3:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001310158.2:c.1308G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001310160.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001310161.3:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368887.2:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368888.2:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368889.2:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368890.2:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368891.2:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368892.2:c.1308G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368893.2:c.1308G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368894.2:c.1308G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368899.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368900.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368901.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368902.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368903.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368904.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368905.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368906.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368907.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368908.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368909.2:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368910.2:c.1509G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368918.2:c.1383G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368919.2:c.1383G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368920.2:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368922.2:c.1107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368923.2:c.1107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368924.2:c.1107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368925.2:c.1107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368926.2:c.1107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368927.2:c.1107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368928.2:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368930.2:c.663G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001604.6:c.1308G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002038305Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV002038305.1

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

Last Updated: Sep 1, 2024