NM_000179.3(MSH6):c.3697_3733dup (p.Phe1245Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 15, 2023
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:: RCV002466110.3

Allele description [Variation Report for NM_000179.3(MSH6):c.3697_3733dup (p.Phe1245Ter)]

NM_000179.3(MSH6):c.3697_3733dup (p.Phe1245Ter)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3697_3733dup (p.Phe1245Ter)

HGVS:

NC_000002.12:g.47806254_47806290dup
NG_007111.1:g.28108_28144dup
NG_008397.1:g.104387_104423dup
NM_000179.3:c.3697_3733dupMANE SELECT
NM_001281492.2:c.3307_3343dup
NM_001281493.2:c.2791_2827dup
NM_001281494.2:c.2791_2827dup
NM_001406795.1:c.3793_3829dup
NM_001406796.1:c.3697_3733dup
NM_001406797.1:c.3400_3436dup
NM_001406798.1:c.3523_3559dup
NM_001406799.1:c.3172_3208dup
NM_001406800.1:c.3697_3733dup
NM_001406801.1:c.3400_3436dup
NM_001406802.1:c.3793_3829dup
NM_001406803.1:c.2833_2869dup
NM_001406804.1:c.3619_3655dup
NM_001406805.1:c.3400_3436dup
NM_001406806.1:c.3172_3208dup
NM_001406807.1:c.3172_3208dup
NM_001406808.1:c.3697_3733dup
NM_001406809.1:c.3697_3733dup
NM_001406811.1:c.2791_2827dup
NM_001406812.1:c.2791_2827dup
NM_001406813.1:c.3703_3739dup
NM_001406814.1:c.2791_2827dup
NM_001406815.1:c.2791_2827dup
NM_001406816.1:c.2791_2827dup
NM_001406817.1:c.2131_2167dup
NM_001406818.1:c.3400_3436dup
NM_001406819.1:c.3400_3436dup
NM_001406820.1:c.3400_3436dup
NM_001406821.1:c.3400_3436dup
NM_001406822.1:c.3400_3436dup
NM_001406823.1:c.2791_2827dup
NM_001406824.1:c.3400_3436dup
NM_001406825.1:c.3400_3436dup
NM_001406826.1:c.3529_3565dup
NM_001406827.1:c.3400_3436dup
NM_001406828.1:c.3400_3436dup
NM_001406829.1:c.2791_2827dup
NM_001406830.1:c.3400_3436dup
NM_001406831.1:c.478_514dup
NM_001406832.1:c.544_580dup
NM_001407362.1:c.1642_1678dup
NP_000170.1:p.Phe1245Ter
NP_000170.1:p.Phe1245Terfs
NP_001268421.1:p.Phe1115Ter
NP_001268422.1:p.Phe943Ter
NP_001268423.1:p.Phe943Ter
NP_001393724.1:p.Phe1277Terfs
NP_001393725.1:p.Phe1245Terfs
NP_001393726.1:p.Phe1146Terfs
NP_001393727.1:p.Phe1187Terfs
NP_001393728.1:p.Phe1070Terfs
NP_001393729.1:p.Phe1245Terfs
NP_001393730.1:p.Phe1146Terfs
NP_001393731.1:p.Phe1277Terfs
NP_001393732.1:p.Phe957Terfs
NP_001393733.1:p.Phe1219Terfs
NP_001393734.1:p.Phe1146Terfs
NP_001393735.1:p.Phe1070Terfs
NP_001393736.1:p.Phe1070Terfs
NP_001393737.1:p.Phe1245Terfs
NP_001393738.1:p.Phe1245Terfs
NP_001393740.1:p.Phe943Terfs
NP_001393741.1:p.Phe943Terfs
NP_001393742.1:p.Phe1247Terfs
NP_001393743.1:p.Phe943Terfs
NP_001393744.1:p.Phe943Terfs
NP_001393745.1:p.Phe943Terfs
NP_001393746.1:p.Phe723Terfs
NP_001393747.1:p.Phe1146Terfs
NP_001393748.1:p.Phe1146Terfs
NP_001393749.1:p.Phe1146Terfs
NP_001393750.1:p.Phe1146Terfs
NP_001393751.1:p.Phe1146Terfs
NP_001393752.1:p.Phe943Terfs
NP_001393753.1:p.Phe1146Terfs
NP_001393754.1:p.Phe1146Terfs
NP_001393755.1:p.Phe1189Terfs
NP_001393756.1:p.Phe1146Terfs
NP_001393757.1:p.Phe1146Terfs
NP_001393758.1:p.Phe943Terfs
NP_001393759.1:p.Phe1146Terfs
NP_001393760.1:p.Phe172Terfs
NP_001393761.1:p.Phe194Terfs
NP_001394291.1:p.Phe560Terfs
LRG_219t1:c.3697_3733dup
LRG_219:g.28108_28144dup
LRG_219p1:p.Phe1245Terfs
NC_000002.11:g.48033393_48033429dup
NM_000179.2:c.3697_3733dup
NR_176256.1:n.2627_2663dup
NR_176257.1:n.3958_3994dup
NR_176258.1:n.3887_3923dup
NR_176259.1:n.3786_3822dup
NR_176260.1:n.1731_1767dup
NR_176261.1:n.3668_3704dup

Protein change:

F1115*

Molecular consequence:

NM_001406795.1:c.3793_3829dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406796.1:c.3697_3733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406797.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406798.1:c.3523_3559dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406799.1:c.3172_3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406800.1:c.3697_3733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406801.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406802.1:c.3793_3829dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406803.1:c.2833_2869dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406804.1:c.3619_3655dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406805.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406806.1:c.3172_3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406807.1:c.3172_3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406808.1:c.3697_3733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406809.1:c.3697_3733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406811.1:c.2791_2827dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406812.1:c.2791_2827dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406813.1:c.3703_3739dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406814.1:c.2791_2827dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406815.1:c.2791_2827dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406816.1:c.2791_2827dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406817.1:c.2131_2167dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406818.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406819.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406820.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406821.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406822.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406823.1:c.2791_2827dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406824.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406825.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406826.1:c.3529_3565dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406827.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406828.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406829.1:c.2791_2827dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406830.1:c.3400_3436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406831.1:c.478_514dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406832.1:c.544_580dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407362.1:c.1642_1678dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000179.3:c.3697_3733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001281492.2:c.3307_3343dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001281493.2:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001281494.2:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406795.1:c.3793_3829dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406796.1:c.3697_3733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406797.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406798.1:c.3523_3559dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406799.1:c.3172_3208dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406800.1:c.3697_3733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406801.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406802.1:c.3793_3829dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406803.1:c.2833_2869dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406804.1:c.3619_3655dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406805.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406806.1:c.3172_3208dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406807.1:c.3172_3208dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406808.1:c.3697_3733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406809.1:c.3697_3733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406811.1:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406812.1:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406813.1:c.3703_3739dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406814.1:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406815.1:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406816.1:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406817.1:c.2131_2167dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406818.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406819.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406820.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406821.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406822.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406823.1:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406824.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406825.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406826.1:c.3529_3565dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406827.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406828.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406829.1:c.2791_2827dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406830.1:c.3400_3436dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406831.1:c.478_514dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001406832.1:c.544_580dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407362.1:c.1642_1678dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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PREDICTED: fibrillin-1 isoform X1 [Nanorana parkeri]
PREDICTED: fibrillin-1 isoform X1 [Nanorana parkeri]
gi|1072265767|ref|XP_018418410.1|

Protein
Carbonic anhydrase 3 [Mus musculus]
Carbonic anhydrase 3 [Mus musculus]
gi|15029812|gb|AAH11129.1|

Protein
LOC121436540 [Microtus oregoni]
LOC121436540 [Microtus oregoni]
Gene ID:121436540

Gene
FBN1 [Nanorana parkeri]
FBN1 [Nanorana parkeri]
Gene ID:108792195

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002760675	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 15, 2023)	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

SCV002760675

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 15, 2023)

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

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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002760675.3

#	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: Oct 14, 2023

ClinVar

Relating variation to medicine