NM_007294.4(BRCA1):c.*4C>T AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Apr 3, 2020
Review status:: criteria provided, conflicting classifications

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:: RCV001284281.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.*4C>T]

NM_007294.4(BRCA1):c.*4C>T

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.*4C>T

HGVS:

NC_000017.11:g.43045674G>A
NG_005905.2:g.172310C>T
NM_001407571.1:c.*4C>T
NM_001407581.1:c.*4C>T
NM_001407582.1:c.*4C>T
NM_001407583.1:c.*4C>T
NM_001407585.1:c.*4C>T
NM_001407587.1:c.*4C>T
NM_001407590.1:c.*4C>T
NM_001407591.1:c.*4C>T
NM_001407593.1:c.*4C>T
NM_001407594.1:c.*4C>T
NM_001407596.1:c.*4C>T
NM_001407597.1:c.*4C>T
NM_001407598.1:c.*4C>T
NM_001407602.1:c.*4C>T
NM_001407603.1:c.*4C>T
NM_001407605.1:c.*4C>T
NM_001407610.1:c.*4C>T
NM_001407611.1:c.*4C>T
NM_001407612.1:c.*4C>T
NM_001407613.1:c.*4C>T
NM_001407614.1:c.*4C>T
NM_001407615.1:c.*4C>T
NM_001407616.1:c.*4C>T
NM_001407617.1:c.*4C>T
NM_001407618.1:c.*4C>T
NM_001407619.1:c.*4C>T
NM_001407620.1:c.*4C>T
NM_001407621.1:c.*4C>T
NM_001407622.1:c.*4C>T
NM_001407623.1:c.*4C>T
NM_001407624.1:c.*4C>T
NM_001407625.1:c.*4C>T
NM_001407626.1:c.*4C>T
NM_001407627.1:c.*4C>T
NM_001407628.1:c.*4C>T
NM_001407629.1:c.*4C>T
NM_001407630.1:c.*4C>T
NM_001407631.1:c.*4C>T
NM_001407632.1:c.*4C>T
NM_001407633.1:c.*4C>T
NM_001407634.1:c.*4C>T
NM_001407635.1:c.*4C>T
NM_001407636.1:c.*4C>T
NM_001407637.1:c.*4C>T
NM_001407638.1:c.*4C>T
NM_001407639.1:c.*4C>T
NM_001407640.1:c.*4C>T
NM_001407641.1:c.*4C>T
NM_001407642.1:c.*4C>T
NM_001407644.1:c.*4C>T
NM_001407645.1:c.*4C>T
NM_001407646.1:c.*4C>T
NM_001407647.1:c.*4C>T
NM_001407648.1:c.*4C>T
NM_001407649.1:c.*4C>T
NM_001407652.1:c.*4C>T
NM_001407653.1:c.*4C>T
NM_001407654.1:c.*4C>T
NM_001407655.1:c.*4C>T
NM_001407656.1:c.*4C>T
NM_001407657.1:c.*4C>T
NM_001407658.1:c.*4C>T
NM_001407659.1:c.*4C>T
NM_001407660.1:c.*4C>T
NM_001407661.1:c.*4C>T
NM_001407662.1:c.*4C>T
NM_001407663.1:c.*4C>T
NM_001407664.1:c.*4C>T
NM_001407665.1:c.*4C>T
NM_001407666.1:c.*4C>T
NM_001407667.1:c.*4C>T
NM_001407668.1:c.*4C>T
NM_001407669.1:c.*4C>T
NM_001407670.1:c.*4C>T
NM_001407671.1:c.*4C>T
NM_001407672.1:c.*4C>T
NM_001407673.1:c.*4C>T
NM_001407674.1:c.*4C>T
NM_001407675.1:c.*4C>T
NM_001407676.1:c.*4C>T
NM_001407677.1:c.*4C>T
NM_001407678.1:c.*4C>T
NM_001407679.1:c.*4C>T
NM_001407680.1:c.*4C>T
NM_001407681.1:c.*4C>T
NM_001407682.1:c.*4C>T
NM_001407683.1:c.*4C>T
NM_001407684.1:c.*4C>T
NM_001407685.1:c.*4C>T
NM_001407686.1:c.*4C>T
NM_001407687.1:c.*4C>T
NM_001407688.1:c.*4C>T
NM_001407689.1:c.*4C>T
NM_001407690.1:c.*4C>T
NM_001407691.1:c.*4C>T
NM_001407692.1:c.*4C>T
NM_001407694.1:c.*4C>T
NM_001407695.1:c.*4C>T
NM_001407696.1:c.*4C>T
NM_001407697.1:c.*4C>T
NM_001407698.1:c.*4C>T
NM_001407724.1:c.*4C>T
NM_001407725.1:c.*4C>T
NM_001407726.1:c.*4C>T
NM_001407727.1:c.*4C>T
NM_001407728.1:c.*4C>T
NM_001407729.1:c.*4C>T
NM_001407730.1:c.*4C>T
NM_001407731.1:c.*4C>T
NM_001407732.1:c.*4C>T
NM_001407733.1:c.*4C>T
NM_001407734.1:c.*4C>T
NM_001407735.1:c.*4C>T
NM_001407736.1:c.*4C>T
NM_001407737.1:c.*4C>T
NM_001407738.1:c.*4C>T
NM_001407739.1:c.*4C>T
NM_001407740.1:c.*4C>T
NM_001407741.1:c.*4C>T
NM_001407742.1:c.*4C>T
NM_001407743.1:c.*4C>T
NM_001407744.1:c.*4C>T
NM_001407745.1:c.*4C>T
NM_001407746.1:c.*4C>T
NM_001407747.1:c.*4C>T
NM_001407748.1:c.*4C>T
NM_001407749.1:c.*4C>T
NM_001407750.1:c.*4C>T
NM_001407751.1:c.*4C>T
NM_001407752.1:c.*4C>T
NM_001407838.1:c.*4C>T
NM_001407839.1:c.*4C>T
NM_001407841.1:c.*4C>T
NM_001407842.1:c.*4C>T
NM_001407843.1:c.*4C>T
NM_001407844.1:c.*4C>T
NM_001407845.1:c.*4C>T
NM_001407846.1:c.*4C>T
NM_001407847.1:c.*4C>T
NM_001407848.1:c.*4C>T
NM_001407849.1:c.*4C>T
NM_001407850.1:c.*4C>T
NM_001407851.1:c.*4C>T
NM_001407852.1:c.*4C>T
NM_001407853.1:c.*4C>T
NM_001407854.1:c.*110C>T
NM_001407858.1:c.*110C>T
NM_001407859.1:c.*110C>T
NM_001407860.1:c.*110C>T
NM_001407861.1:c.*110C>T
NM_001407862.1:c.*4C>T
NM_001407863.1:c.*4C>T
NM_001407874.1:c.*4C>T
NM_001407875.1:c.*4C>T
NM_001407879.1:c.*4C>T
NM_001407881.1:c.*4C>T
NM_001407882.1:c.*4C>T
NM_001407884.1:c.*4C>T
NM_001407885.1:c.*4C>T
NM_001407886.1:c.*4C>T
NM_001407887.1:c.*4C>T
NM_001407889.1:c.*4C>T
NM_001407894.1:c.*4C>T
NM_001407895.1:c.*4C>T
NM_001407896.1:c.*4C>T
NM_001407897.1:c.*4C>T
NM_001407898.1:c.*4C>T
NM_001407899.1:c.*4C>T
NM_001407900.1:c.*4C>T
NM_001407902.1:c.*4C>T
NM_001407904.1:c.*4C>T
NM_001407906.1:c.*4C>T
NM_001407907.1:c.*4C>T
NM_001407908.1:c.*4C>T
NM_001407909.1:c.*4C>T
NM_001407910.1:c.*4C>T
NM_001407915.1:c.*4C>T
NM_001407916.1:c.*4C>T
NM_001407917.1:c.*4C>T
NM_001407918.1:c.*4C>T
NM_001407919.1:c.*4C>T
NM_001407920.1:c.*4C>T
NM_001407921.1:c.*4C>T
NM_001407922.1:c.*4C>T
NM_001407923.1:c.*4C>T
NM_001407924.1:c.*4C>T
NM_001407925.1:c.*4C>T
NM_001407926.1:c.*4C>T
NM_001407927.1:c.*4C>T
NM_001407928.1:c.*4C>T
NM_001407929.1:c.*4C>T
NM_001407930.1:c.*4C>T
NM_001407931.1:c.*4C>T
NM_001407932.1:c.*4C>T
NM_001407933.1:c.*4C>T
NM_001407934.1:c.*4C>T
NM_001407935.1:c.*4C>T
NM_001407936.1:c.*4C>T
NM_001407937.1:c.*110C>T
NM_001407938.1:c.*110C>T
NM_001407939.1:c.*110C>T
NM_001407940.1:c.*110C>T
NM_001407941.1:c.*110C>T
NM_001407942.1:c.*110C>T
NM_001407943.1:c.*110C>T
NM_001407944.1:c.*110C>T
NM_001407945.1:c.*110C>T
NM_001407946.1:c.*4C>T
NM_001407947.1:c.*4C>T
NM_001407948.1:c.*4C>T
NM_001407949.1:c.*4C>T
NM_001407950.1:c.*4C>T
NM_001407951.1:c.*4C>T
NM_001407952.1:c.*4C>T
NM_001407953.1:c.*4C>T
NM_001407954.1:c.*4C>T
NM_001407955.1:c.*4C>T
NM_001407956.1:c.*4C>T
NM_001407957.1:c.*4C>T
NM_001407958.1:c.*4C>T
NM_001407959.1:c.*4C>T
NM_001407960.1:c.*4C>T
NM_001407962.1:c.*4C>T
NM_001407963.1:c.*4C>T
NM_001407964.1:c.*4C>T
NM_001407965.1:c.*4C>T
NM_001407966.1:c.*4C>T
NM_001407967.1:c.*4C>T
NM_001407968.1:c.*4C>T
NM_001407969.1:c.*4C>T
NM_001407970.1:c.*4C>T
NM_001407971.1:c.*4C>T
NM_001407972.1:c.*4C>T
NM_001407973.1:c.*4C>T
NM_001407974.1:c.*4C>T
NM_001407975.1:c.*4C>T
NM_001407976.1:c.*4C>T
NM_001407977.1:c.*4C>T
NM_001407978.1:c.*4C>T
NM_001407979.1:c.*4C>T
NM_001407980.1:c.*4C>T
NM_001407981.1:c.*4C>T
NM_001407982.1:c.*4C>T
NM_001407983.1:c.*4C>T
NM_001407984.1:c.*4C>T
NM_001407985.1:c.*4C>T
NM_001407986.1:c.*4C>T
NM_001407990.1:c.*4C>T
NM_001407991.1:c.*4C>T
NM_001407992.1:c.*4C>T
NM_001407993.1:c.*4C>T
NM_001408392.1:c.*4C>T
NM_001408396.1:c.*4C>T
NM_001408397.1:c.*4C>T
NM_001408398.1:c.*4C>T
NM_001408399.1:c.*4C>T
NM_001408400.1:c.*4C>T
NM_001408401.1:c.*4C>T
NM_001408402.1:c.*4C>T
NM_001408403.1:c.*4C>T
NM_001408404.1:c.*4C>T
NM_001408406.1:c.*4C>T
NM_001408407.1:c.*4C>T
NM_001408408.1:c.*4C>T
NM_001408409.1:c.*4C>T
NM_001408410.1:c.*4C>T
NM_001408411.1:c.*4C>T
NM_001408412.1:c.*4C>T
NM_001408413.1:c.*4C>T
NM_001408414.1:c.*4C>T
NM_001408415.1:c.*4C>T
NM_001408416.1:c.*4C>T
NM_001408418.1:c.*4C>T
NM_001408419.1:c.*4C>T
NM_001408420.1:c.*4C>T
NM_001408421.1:c.*4C>T
NM_001408422.1:c.*4C>T
NM_001408423.1:c.*4C>T
NM_001408424.1:c.*4C>T
NM_001408425.1:c.*4C>T
NM_001408426.1:c.*4C>T
NM_001408427.1:c.*4C>T
NM_001408428.1:c.*4C>T
NM_001408429.1:c.*4C>T
NM_001408430.1:c.*4C>T
NM_001408431.1:c.*4C>T
NM_001408432.1:c.*4C>T
NM_001408433.1:c.*4C>T
NM_001408434.1:c.*4C>T
NM_001408435.1:c.*4C>T
NM_001408436.1:c.*4C>T
NM_001408437.1:c.*4C>T
NM_001408438.1:c.*4C>T
NM_001408439.1:c.*4C>T
NM_001408440.1:c.*4C>T
NM_001408441.1:c.*4C>T
NM_001408442.1:c.*4C>T
NM_001408443.1:c.*4C>T
NM_001408444.1:c.*4C>T
NM_001408445.1:c.*4C>T
NM_001408446.1:c.*4C>T
NM_001408447.1:c.*4C>T
NM_001408448.1:c.*4C>T
NM_001408450.1:c.*4C>T
NM_001408451.1:c.*4C>T
NM_001408452.1:c.*4C>T
NM_001408453.1:c.*4C>T
NM_001408454.1:c.*4C>T
NM_001408455.1:c.*4C>T
NM_001408456.1:c.*4C>T
NM_001408457.1:c.*4C>T
NM_001408458.1:c.*4C>T
NM_001408459.1:c.*4C>T
NM_001408460.1:c.*4C>T
NM_001408461.1:c.*4C>T
NM_001408462.1:c.*4C>T
NM_001408463.1:c.*4C>T
NM_001408464.1:c.*4C>T
NM_001408465.1:c.*4C>T
NM_001408466.1:c.*4C>T
NM_001408467.1:c.*4C>T
NM_001408468.1:c.*4C>T
NM_001408469.1:c.*4C>T
NM_001408470.1:c.*4C>T
NM_001408472.1:c.*110C>T
NM_001408473.1:c.*110C>T
NM_001408474.1:c.*4C>T
NM_001408475.1:c.*4C>T
NM_001408476.1:c.*4C>T
NM_001408478.1:c.*4C>T
NM_001408479.1:c.*4C>T
NM_001408480.1:c.*4C>T
NM_001408481.1:c.*4C>T
NM_001408482.1:c.*4C>T
NM_001408483.1:c.*4C>T
NM_001408484.1:c.*4C>T
NM_001408485.1:c.*4C>T
NM_001408489.1:c.*4C>T
NM_001408490.1:c.*4C>T
NM_001408491.1:c.*4C>T
NM_001408492.1:c.*4C>T
NM_001408493.1:c.*4C>T
NM_001408494.1:c.*4C>T
NM_001408495.1:c.*4C>T
NM_001408496.1:c.*4C>T
NM_001408497.1:c.*4C>T
NM_001408498.1:c.*4C>T
NM_001408499.1:c.*4C>T
NM_001408500.1:c.*4C>T
NM_001408501.1:c.*4C>T
NM_001408502.1:c.*4C>T
NM_001408503.1:c.*4C>T
NM_001408504.1:c.*4C>T
NM_001408505.1:c.*4C>T
NM_001408506.1:c.*4C>T
NM_001408507.1:c.*4C>T
NM_001408508.1:c.*4C>T
NM_001408509.1:c.*4C>T
NM_001408510.1:c.*4C>T
NM_001408511.1:c.*4C>T
NM_001408512.1:c.*4C>T
NM_001408513.1:c.*4C>T
NM_001408514.1:c.*4C>T
NM_007294.4:c.*4C>TMANE SELECT
NM_007297.4:c.*4C>T
NM_007298.4:c.*4C>T
NM_007299.4:c.*110C>T
NM_007300.4:c.*4C>T
NM_007304.2:c.*4C>T
LRG_292t1:c.*4C>T
LRG_292:g.172310C>T
NC_000017.10:g.41197691G>A
NM_007294.3:c.*4C>T
NM_007298.3:c.*4C>T
NR_027676.2:n.5773C>T

Links:

dbSNP: rs1057520246

NCBI 1000 Genomes Browser:

rs1057520246

Molecular consequence:

NM_007294.4:c.*4C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_007297.4:c.*4C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_007299.4:c.*110C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_007300.4:c.*4C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_027676.2:n.5773C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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marine sediment metagenome
marine sediment metagenome
Guaymas Basin sediment metagenomic assembly

BioProject
BioProject Links for Protein (Select 1490347182) (1)
BioProject
BioProject Links for Protein (Select 1490347207) (1)
BioProject
MAG: hypothetical protein DRQ43_00015 [Gammaproteobacteria bacterium]
MAG: hypothetical protein DRQ43_00015 [Gammaproteobacteria bacterium]
gi|1490347208|gb|RKZ99294.1||gnl|WG W|DRQ43_00015

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000512325	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jun 3, 2019)	germline	clinical testing	Citation Link,
SCV001469981	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Apr 3, 2020)	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

SCV000512325

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jun 3, 2019)

germline

clinical testing

Citation Link,

SCV001469981

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Apr 3, 2020)

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	yes	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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000512325.3

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469981.1

#	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: Nov 3, 2024

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