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NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 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:
RCV002478248.1

Allele description [Variation Report for NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)]

NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)

Gene:
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)
HGVS:
  • NC_000011.10:g.31800696_31800704del
  • NG_008679.1:g.22262_22270del
  • NM_000280.6:c.514_522del
  • NM_001127612.3:c.514_522del
  • NM_001258462.3:c.556_564del
  • NM_001258463.2:c.556_564del
  • NM_001258464.2:c.514_522del
  • NM_001258465.3:c.514_522del
  • NM_001310158.2:c.556_564del
  • NM_001310159.1:c.514_522del
  • NM_001310160.2:c.106_114del
  • NM_001310161.3:c.106_114del
  • NM_001368887.2:c.514_522del
  • NM_001368888.2:c.514_522del
  • NM_001368889.2:c.514_522del
  • NM_001368890.2:c.514_522del
  • NM_001368891.2:c.514_522del
  • NM_001368892.2:c.556_564del
  • NM_001368893.2:c.556_564del
  • NM_001368894.2:c.556_564delMANE SELECT
  • NM_001368899.2:c.106_114del
  • NM_001368900.2:c.106_114del
  • NM_001368901.2:c.106_114del
  • NM_001368902.2:c.106_114del
  • NM_001368903.2:c.106_114del
  • NM_001368904.2:c.106_114del
  • NM_001368905.2:c.106_114del
  • NM_001368906.2:c.106_114del
  • NM_001368907.2:c.106_114del
  • NM_001368908.2:c.106_114del
  • NM_001368909.2:c.106_114del
  • NM_001368910.2:c.757_765del
  • NM_001368911.2:c.559_567del
  • NM_001368912.2:c.556_564del
  • NM_001368913.2:c.556_564del
  • NM_001368914.2:c.556_564del
  • NM_001368915.2:c.514_522del
  • NM_001368916.2:c.514_522del
  • NM_001368917.2:c.514_522del
  • NM_001368918.2:c.631_639del
  • NM_001368919.2:c.631_639del
  • NM_001368920.2:c.589_597del
  • NM_001368921.2:c.355_363del
  • NM_001368922.2:c.355_363del
  • NM_001368923.2:c.355_363del
  • NM_001368924.2:c.355_363del
  • NM_001368925.2:c.355_363del
  • NM_001368926.2:c.355_363del
  • NM_001368927.2:c.355_363del
  • NM_001368928.2:c.313_321del
  • NM_001368929.2:c.106_114del
  • NM_001604.6:c.556_564del
  • NP_000271.1:p.Pro172_Gln174del
  • NP_001121084.1:p.Pro172_Gln174del
  • NP_001245391.1:p.Pro186_Gln188del
  • NP_001245392.1:p.Pro186_Gln188del
  • NP_001245393.1:p.Pro172_Gln174del
  • NP_001245394.1:p.Pro172_Gln174del
  • NP_001297087.1:p.Pro186_Gln188del
  • NP_001297088.1:p.Pro172_Gln174del
  • NP_001297089.1:p.Pro36_Gln38del
  • NP_001297090.1:p.Pro36_Gln38del
  • NP_001355816.1:p.Pro172_Gln174del
  • NP_001355817.1:p.Pro172_Gln174del
  • NP_001355818.1:p.Pro172_Gln174del
  • NP_001355819.1:p.Pro172_Gln174del
  • NP_001355820.1:p.Pro172_Gln174del
  • NP_001355821.1:p.Pro186_Gln188del
  • NP_001355822.1:p.Pro186_Gln188del
  • NP_001355823.1:p.Pro186_Gln188del
  • NP_001355828.1:p.Pro36_Gln38del
  • NP_001355829.1:p.Pro36_Gln38del
  • NP_001355830.1:p.Pro36_Gln38del
  • NP_001355831.1:p.Pro36_Gln38del
  • NP_001355832.1:p.Pro36_Gln38del
  • NP_001355833.1:p.Pro36_Gln38del
  • NP_001355834.1:p.Pro36_Gln38del
  • NP_001355835.1:p.Pro36_Gln38del
  • NP_001355836.1:p.Pro36_Gln38del
  • NP_001355837.1:p.Pro36_Gln38del
  • NP_001355838.1:p.Pro36_Gln38del
  • NP_001355839.1:p.Pro253_Gln255del
  • NP_001355840.1:p.Pro187_Gln189del
  • NP_001355841.1:p.Pro186_Gln188del
  • NP_001355842.1:p.Pro186_Gln188del
  • NP_001355843.1:p.Pro186_Gln188del
  • NP_001355844.1:p.Pro172_Gln174del
  • NP_001355845.1:p.Pro172_Gln174del
  • NP_001355846.1:p.Pro172_Gln174del
  • NP_001355847.1:p.Pro211_Gln213del
  • NP_001355848.1:p.Pro211_Gln213del
  • NP_001355849.1:p.Pro197_Gln199del
  • NP_001355850.1:p.Pro119_Gln121del
  • NP_001355851.1:p.Pro119_Gln121del
  • NP_001355852.1:p.Pro119_Gln121del
  • NP_001355853.1:p.Pro119_Gln121del
  • NP_001355854.1:p.Pro119_Gln121del
  • NP_001355855.1:p.Pro119_Gln121del
  • NP_001355856.1:p.Pro119_Gln121del
  • NP_001355857.1:p.Pro105_Gln107del
  • NP_001355858.1:p.Pro36_Gln38del
  • NP_001595.2:p.Pro186_Gln188del
  • LRG_720:g.22262_22270del
  • NC_000011.9:g.31822240_31822248del
  • NC_000011.9:g.31822244_31822252del
  • NM_000280.4:c.514_522del
  • NR_160916.2:n.978_986del
  • NR_160917.2:n.983_991del
Links:
dbSNP: rs747077748
NCBI 1000 Genomes Browser:
rs747077748
Molecular consequence:
  • NM_000280.6:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001127612.3:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001258462.3:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001258463.2:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001258464.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001258465.3:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001310158.2:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001310159.1:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001310160.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001310161.3:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368887.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368888.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368889.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368890.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368891.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368892.2:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368893.2:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368894.2:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368899.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368900.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368901.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368902.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368903.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368904.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368905.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368906.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368907.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368908.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368909.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368910.2:c.757_765del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368911.2:c.559_567del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368912.2:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368913.2:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368914.2:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368915.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368916.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368917.2:c.514_522del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368918.2:c.631_639del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368919.2:c.631_639del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368920.2:c.589_597del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368921.2:c.355_363del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368922.2:c.355_363del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368923.2:c.355_363del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368924.2:c.355_363del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368925.2:c.355_363del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368926.2:c.355_363del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368927.2:c.355_363del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368928.2:c.313_321del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001368929.2:c.106_114del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001604.6:c.556_564del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_160916.2:n.978_986del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160917.2:n.983_991del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aniridia 1 (AN1)
Identifiers:
MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210
Name:
Foveal hypoplasia 1
Synonyms:
Foveal hypoplasia and presenile cataract syndrome; FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT; FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES
Identifiers:
MONDO: MONDO:0007628; MedGen: C3805604; Orphanet: 2253; OMIM: 136520
Name:
Coloboma of optic nerve
Synonyms:
Optic nerve head pits, bilateral congenital; Congenital coloboma of the optic nerve; Coloboma of optic nerve (disease)
Identifiers:
MONDO: MONDO:0007354; MedGen: C0155299; Orphanet: 35737; OMIM: 120430; Human Phenotype Ontology: HP:0000588
Name:
Autosomal dominant keratitis
Synonyms:
Keratitis, hereditary; Dominantly inherited keratitis
Identifiers:
MONDO: MONDO:0007848; MedGen: C1835698; Orphanet: 2334; OMIM: 148190
Name:
Isolated optic nerve hypoplasia
Synonyms:
Optic nerve hypoplasia, bilateral
Identifiers:
MONDO: MONDO:0008136; MedGen: C1833797; OMIM: 165550
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
Name:
11p partial monosomy syndrome (WAGR)
Synonyms:
CHROMOSOME 11p13 DELETION SYNDROME; WAGR syndrome; WAGR Complex; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008681; MedGen: C0206115; Orphanet: 893; OMIM: 194072
Name:
Coloboma, ocular, autosomal dominant (MCOPCB12)
Synonyms:
Microphthalmia/coloboma 12
Identifiers:
MONDO: MONDO:0007350; MedGen: CN263371; OMIM: 120200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002785784Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 13, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002785784.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024