NM_001368894.2(PAX6):c.555A>G (p.Gln185=) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 21, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002587478.3

Allele description [Variation Report for NM_001368894.2(PAX6):c.555A>G (p.Gln185=)]

NM_001368894.2(PAX6):c.555A>G (p.Gln185=)

Gene:

PAX6:paired box 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

Preferred name:

NM_001368894.2(PAX6):c.555A>G (p.Gln185=)

HGVS:

NC_000011.10:g.31800701T>C
NG_008679.1:g.22261A>G
NM_000280.6:c.513A>G
NM_001127612.3:c.513A>G
NM_001258462.3:c.555A>G
NM_001258463.2:c.555A>G
NM_001258464.2:c.513A>G
NM_001258465.3:c.513A>G
NM_001310158.2:c.555A>G
NM_001310159.1:c.513A>G
NM_001310160.2:c.105A>G
NM_001310161.3:c.105A>G
NM_001368887.2:c.513A>G
NM_001368888.2:c.513A>G
NM_001368889.2:c.513A>G
NM_001368890.2:c.513A>G
NM_001368891.2:c.513A>G
NM_001368892.2:c.555A>G
NM_001368893.2:c.555A>G
NM_001368894.2:c.555A>GMANE SELECT
NM_001368899.2:c.105A>G
NM_001368900.2:c.105A>G
NM_001368901.2:c.105A>G
NM_001368902.2:c.105A>G
NM_001368903.2:c.105A>G
NM_001368904.2:c.105A>G
NM_001368905.2:c.105A>G
NM_001368906.2:c.105A>G
NM_001368907.2:c.105A>G
NM_001368908.2:c.105A>G
NM_001368909.2:c.105A>G
NM_001368910.2:c.756A>G
NM_001368911.2:c.558A>G
NM_001368912.2:c.555A>G
NM_001368913.2:c.555A>G
NM_001368914.2:c.555A>G
NM_001368915.2:c.513A>G
NM_001368916.2:c.513A>G
NM_001368917.2:c.513A>G
NM_001368918.2:c.630A>G
NM_001368919.2:c.630A>G
NM_001368920.2:c.588A>G
NM_001368921.2:c.354A>G
NM_001368922.2:c.354A>G
NM_001368923.2:c.354A>G
NM_001368924.2:c.354A>G
NM_001368925.2:c.354A>G
NM_001368926.2:c.354A>G
NM_001368927.2:c.354A>G
NM_001368928.2:c.312A>G
NM_001368929.2:c.105A>G
NM_001604.6:c.555A>G
NP_000271.1:p.Gln171=
NP_000271.1:p.Gln171=
NP_001121084.1:p.Gln171=
NP_001245391.1:p.Gln185=
NP_001245392.1:p.Gln185=
NP_001245393.1:p.Gln171=
NP_001245394.1:p.Gln171=
NP_001297087.1:p.Gln185=
NP_001297088.1:p.Gln171=
NP_001297089.1:p.Gln35=
NP_001297090.1:p.Gln35=
NP_001355816.1:p.Gln171=
NP_001355817.1:p.Gln171=
NP_001355818.1:p.Gln171=
NP_001355819.1:p.Gln171=
NP_001355820.1:p.Gln171=
NP_001355821.1:p.Gln185=
NP_001355822.1:p.Gln185=
NP_001355823.1:p.Gln185=
NP_001355828.1:p.Gln35=
NP_001355829.1:p.Gln35=
NP_001355830.1:p.Gln35=
NP_001355831.1:p.Gln35=
NP_001355832.1:p.Gln35=
NP_001355833.1:p.Gln35=
NP_001355834.1:p.Gln35=
NP_001355835.1:p.Gln35=
NP_001355836.1:p.Gln35=
NP_001355837.1:p.Gln35=
NP_001355838.1:p.Gln35=
NP_001355839.1:p.Gln252=
NP_001355840.1:p.Gln186=
NP_001355841.1:p.Gln185=
NP_001355842.1:p.Gln185=
NP_001355843.1:p.Gln185=
NP_001355844.1:p.Gln171=
NP_001355845.1:p.Gln171=
NP_001355846.1:p.Gln171=
NP_001355847.1:p.Gln210=
NP_001355848.1:p.Gln210=
NP_001355849.1:p.Gln196=
NP_001355850.1:p.Gln118=
NP_001355851.1:p.Gln118=
NP_001355852.1:p.Gln118=
NP_001355853.1:p.Gln118=
NP_001355854.1:p.Gln118=
NP_001355855.1:p.Gln118=
NP_001355856.1:p.Gln118=
NP_001355857.1:p.Gln104=
NP_001355858.1:p.Gln35=
NP_001595.2:p.Gln185=
LRG_720t1:c.513A>G
LRG_720:g.22261A>G
LRG_720p1:p.Gln171=
NC_000011.9:g.31822249T>C
NM_000280.3:c.513A>G
NR_160916.2:n.977A>G
NR_160917.2:n.982A>G

Molecular consequence:

NR_160916.2:n.977A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160917.2:n.982A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000280.6:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127612.3:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258462.3:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258463.2:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258464.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258465.3:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001310158.2:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001310159.1:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001310160.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001310161.3:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368887.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368888.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368889.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368890.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368891.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368892.2:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368893.2:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368894.2:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368899.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368900.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368901.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368902.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368903.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368904.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368905.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368906.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368907.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368908.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368909.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368910.2:c.756A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368911.2:c.558A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368912.2:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368913.2:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368914.2:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368915.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368916.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368917.2:c.513A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368918.2:c.630A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368919.2:c.630A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368920.2:c.588A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368921.2:c.354A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368922.2:c.354A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368923.2:c.354A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368924.2:c.354A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368925.2:c.354A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368926.2:c.354A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368927.2:c.354A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368928.2:c.312A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001368929.2:c.105A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001604.6:c.555A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Aniridia 1 (AN1)
Identifiers:: MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210

Name:: Irido-corneo-trabecular dysgenesis (ASGD5)
Synonyms:: ANTERIOR SEGMENT DYSGENESIS 5
Identifiers:: MONDO: MONDO:0011414; MedGen: C0344559; Orphanet: 708; OMIM: 604229; Human Phenotype Ontology: HP:0000659

Recent activity

Clear Turn Off Turn On

SRS1613990 (3)
SRA
Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA
Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA
gi|148235698|ref|NM_020459.1|

Nucleotide
SRP083158 (1)
SRA
Glycosyltransferase [Streptococcus suis]
Glycosyltransferase [Streptococcus suis]
gi|1139490665|gb|APZ79396.1|

Protein
LIPM lipase family member M [Homo sapiens]
LIPM lipase family member M [Homo sapiens]
Gene ID:340654

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002948411	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (May 21, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002948411

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(May 21, 2022)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002948411.2

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine