NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) AND Cataract 10 multiple types

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Nov 27, 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:: RCV000059343.9

Allele description [Variation Report for NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)]

NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)

Gene:

CRYBA1:crystallin beta A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)

HGVS:

NC_000017.11:g.29253757G>A
NG_008037.1:g.11901G>A
NM_005208.5:c.475G>AMANE SELECT
NP_005199.2:p.Gly159Ser
NP_005199.2:p.Gly159Ser
NC_000017.10:g.27580775G>A
NM_005208.4:c.475G>A

Protein change:

G159S

Links:

dbSNP: rs117757092

NCBI 1000 Genomes Browser:

rs117757092

Molecular consequence:

NM_005208.5:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cataract 10 multiple types
Synonyms:: Cataract, congenital zonular, with sutural opacities; CATARACT 10, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES
Identifiers:: MONDO: MONDO:0010948; MedGen: C1833229; Orphanet: 91492; OMIM: 600881

Recent activity

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PREDICTED: Rattus norvegicus eukaryotic translation elongation factor 1 alpha 1 ...
PREDICTED: Rattus norvegicus eukaryotic translation elongation factor 1 alpha 1 like 1 (Eef1a1l1), mRNA
gi|2678977641|ref|XM_039100128.2|

Nucleotide
Nucleotide Links for Protein (Select 525343631) (3)
Nucleotide
PMC Links for Nucleotide (Select 442734422) (3)
PMC
interferon-induced, double-stranded RNA-activated protein kinase [Gorilla gorill...
interferon-induced, double-stranded RNA-activated protein kinase [Gorilla gorilla gorilla]
gi|525343631|ref|NP_001266614.1|

Protein
Homo sapiens low density lipoprotein receptor class A domain containing 4 (LDLRA...
Homo sapiens low density lipoprotein receptor class A domain containing 4 (LDLRAD4), transcript variant 3, mRNA
gi|442734422|ref|NM_001003674.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000087410	Eye Genetics Research Group, Children's Medical Research Institute	no assertion criteria provided	Uncertain significance (Mar 30, 2012)	maternal	research	PubMed (1) [See all records that cite this PMID]
SCV001013515	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Nov 27, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002799327	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Mar 10, 2022)	unknown	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

SCV000087410

Eye Genetics Research Group, Children's Medical Research Institute

no assertion criteria provided

Uncertain significance
(Mar 30, 2012)

maternal

research

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

SCV001013515

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Nov 27, 2023)

germline

clinical testing

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

SCV002799327

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Mar 10, 2022)

unknown

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S, Jamieson RV.

Eur J Hum Genet. 2014 Jul;22(7):907-15. doi: 10.1038/ejhg.2013.268. Epub 2013 Nov 27.

PubMed [citation]

PMID:: 24281366
PMCID:: PMC4060118

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

See all PubMed Citations (3)

Details of each submission

From Eye Genetics Research Group, Children's Medical Research Institute, SCV000087410.1

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

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001013515.4

#	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

From Fulgent Genetics, Fulgent Genetics, SCV002799327.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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