NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jan 10, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001200336.16

Allele description

NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln)

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.1309T>C (p.Ter437Gln)

Other names:

*222Q; *448Q; *462Q; *287Q; *356Q; *370Q; *504Q; *423Q; *437Q

HGVS:

NC_000011.10:g.31789936A>G
NG_008679.1:g.33026T>C
NM_000280.6:c.1267T>C
NM_001127612.3:c.1267T>C
NM_001258462.3:c.1309T>C
NM_001258463.2:c.1309T>C
NM_001258464.2:c.1267T>C
NM_001258465.3:c.1267T>C
NM_001288725.2:c.*6398A>G
NM_001288726.2:c.*6507A>G
NM_001310158.2:c.1309T>C
NM_001310160.2:c.859T>C
NM_001310161.3:c.859T>C
NM_001368887.2:c.1267T>C
NM_001368888.2:c.1267T>C
NM_001368889.2:c.1267T>C
NM_001368890.2:c.1267T>C
NM_001368891.2:c.1267T>C
NM_001368892.2:c.1309T>C
NM_001368893.2:c.1309T>C
NM_001368894.2:c.1309T>CMANE SELECT
NM_001368899.2:c.859T>C
NM_001368900.2:c.859T>C
NM_001368901.2:c.859T>C
NM_001368902.2:c.859T>C
NM_001368903.2:c.859T>C
NM_001368904.2:c.859T>C
NM_001368905.2:c.859T>C
NM_001368906.2:c.859T>C
NM_001368907.2:c.859T>C
NM_001368908.2:c.859T>C
NM_001368909.2:c.859T>C
NM_001368910.2:c.1510T>C
NM_001368911.2:c.1161T>C
NM_001368912.2:c.1158T>C
NM_001368913.2:c.1158T>C
NM_001368914.2:c.1158T>C
NM_001368915.2:c.1116T>C
NM_001368916.2:c.1116T>C
NM_001368917.2:c.1116T>C
NM_001368918.2:c.1384T>C
NM_001368919.2:c.1384T>C
NM_001368920.2:c.1342T>C
NM_001368921.2:c.957T>C
NM_001368922.2:c.1108T>C
NM_001368923.2:c.1108T>C
NM_001368924.2:c.1108T>C
NM_001368925.2:c.1108T>C
NM_001368926.2:c.1108T>C
NM_001368927.2:c.1108T>C
NM_001368928.2:c.1066T>C
NM_001368929.2:c.708T>C
NM_001368930.2:c.664T>C
NM_001604.6:c.1309T>C
NM_019040.5:c.*6412A>GMANE SELECT
NP_000271.1:p.Ter423Gln
NP_001121084.1:p.Ter423Gln
NP_001245391.1:p.Ter437Gln
NP_001245392.1:p.Ter437Gln
NP_001245393.1:p.Ter423Gln
NP_001245394.1:p.Ter423Gln
NP_001297087.1:p.Ter437Gln
NP_001297089.1:p.Ter287Gln
NP_001297090.1:p.Ter287Gln
NP_001355816.1:p.Ter423Gln
NP_001355817.1:p.Ter423Gln
NP_001355818.1:p.Ter423Gln
NP_001355819.1:p.Ter423Gln
NP_001355820.1:p.Ter423Gln
NP_001355821.1:p.Ter437Gln
NP_001355822.1:p.Ter437Gln
NP_001355823.1:p.Ter437Gln
NP_001355828.1:p.Ter287Gln
NP_001355829.1:p.Ter287Gln
NP_001355830.1:p.Ter287Gln
NP_001355831.1:p.Ter287Gln
NP_001355832.1:p.Ter287Gln
NP_001355833.1:p.Ter287Gln
NP_001355834.1:p.Ter287Gln
NP_001355835.1:p.Ter287Gln
NP_001355836.1:p.Ter287Gln
NP_001355837.1:p.Ter287Gln
NP_001355838.1:p.Ter287Gln
NP_001355839.1:p.Ter504Gln
NP_001355840.1:p.Ser387=
NP_001355841.1:p.Ser386=
NP_001355842.1:p.Ser386=
NP_001355843.1:p.Ser386=
NP_001355844.1:p.Ser372=
NP_001355845.1:p.Ser372=
NP_001355846.1:p.Ser372=
NP_001355847.1:p.Ter462Gln
NP_001355848.1:p.Ter462Gln
NP_001355849.1:p.Ter448Gln
NP_001355850.1:p.Ser319=
NP_001355851.1:p.Ter370Gln
NP_001355852.1:p.Ter370Gln
NP_001355853.1:p.Ter370Gln
NP_001355854.1:p.Ter370Gln
NP_001355855.1:p.Ter370Gln
NP_001355856.1:p.Ter370Gln
NP_001355857.1:p.Ter356Gln
NP_001355858.1:p.Ser236=
NP_001355859.1:p.Ter222Gln
NP_001595.2:p.Ter437Gln
LRG_720t1:c.1267T>C
LRG_720:g.33026T>C
NC_000011.9:g.31811484A>G
NM_000280.3:c.1267T>C
NR_160916.2:n.1497T>C
NR_160917.2:n.1653T>C
p.(Ter423GlnextTer14)

Links:

dbSNP: rs750848278

NCBI 1000 Genomes Browser:

rs750848278

Molecular consequence:

NM_001288725.2:c.*6398A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288726.2:c.*6507A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_019040.5:c.*6412A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_160916.2:n.1497T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160917.2:n.1653T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000280.6:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001127612.3:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001258462.3:c.1309T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001258463.2:c.1309T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001258464.2:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001258465.3:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001310158.2:c.1309T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001310160.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001310161.3:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368887.2:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368888.2:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368889.2:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368890.2:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368891.2:c.1267T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368892.2:c.1309T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368893.2:c.1309T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368894.2:c.1309T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368899.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368900.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368901.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368902.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368903.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368904.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368905.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368906.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368907.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368908.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368909.2:c.859T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368910.2:c.1510T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368918.2:c.1384T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368919.2:c.1384T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368920.2:c.1342T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368922.2:c.1108T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368923.2:c.1108T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368924.2:c.1108T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368925.2:c.1108T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368926.2:c.1108T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368927.2:c.1108T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368928.2:c.1066T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368930.2:c.664T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001604.6:c.1309T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001368911.2:c.1161T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368912.2:c.1158T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368913.2:c.1158T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368914.2:c.1158T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368915.2:c.1116T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368916.2:c.1116T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368917.2:c.1116T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368921.2:c.957T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368929.2:c.708T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001371268	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (May 1, 2020)	germline	clinical testing	Citation Link,
SCV004012578	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jan 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001371268

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(May 1, 2020)

germline

clinical testing

Citation Link,

SCV004012578

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jan 10, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001371268.18

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV004012578.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Normal stop codon changed to a Gln codon, leading to the addition of 14 amino acids at the C-terminus; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32360764)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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